WHAMM

Summary

WHAMM (WASP homolog associated with actin, golgi membranes and microtubules, HGNC:30493) is a protein-coding gene on chromosome 15q25.2, encoding WASP homolog-associated protein with actin, membranes and microtubules (Q8TF30). Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes.

This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene.

Source: NCBI Gene 123720 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 109 total
• MANE Select transcript: NM_001080435

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30493
Approved symbol	WHAMM
Name	WASP homolog associated with actin, golgi membranes and microtubules
Location	15q25.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1971, WHAMM1
Ensembl gene	ENSG00000156232
Ensembl biotype	protein_coding
OMIM	612393
Entrez	123720

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000286760, ENST00000560964, ENST00000944533, ENST00000944534

RefSeq mRNA: 1 — MANE Select: NM_001080435 NM_001080435

CCDS: CCDS45333

Canonical transcript exons

ENST00000286760 — 10 exons

Exon	Start	End
ENSE00001104686	82830599	82831079
ENSE00001104799	82813103	82813276
ENSE00001184594	82826751	82826846
ENSE00001184630	82833229	82836108
ENSE00001753680	82826410	82826496
ENSE00001755454	82816692	82816842
ENSE00002550159	82809628	82810335
ENSE00003582234	82819323	82819488
ENSE00003631259	82823100	82823287
ENSE00003661000	82817920	82818089

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 92.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.2415 / max 388.2914, expressed in 1767 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148104	8.0893	1712
148105	1.8802	671
148103	1.2721	798

Top tissues by expression

263 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	92.38	gold quality
oviduct epithelium	UBERON:0004804	89.52	gold quality
calcaneal tendon	UBERON:0003701	87.31	gold quality
epithelial cell of pancreas	CL:0000083	87.01	silver quality
gastrocnemius	UBERON:0001388	86.41	gold quality
muscle of leg	UBERON:0001383	85.80	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.48	gold quality
tibialis anterior	UBERON:0001385	85.37	silver quality
skeletal muscle tissue	UBERON:0001134	85.31	gold quality
skeletal muscle organ	UBERON:0014892	85.28	gold quality
tendon	UBERON:0000043	85.25	gold quality
upper arm skin	UBERON:0004263	85.25	silver quality
deltoid	UBERON:0001476	84.67	silver quality
ileal mucosa	UBERON:0000331	84.65	silver quality
granulocyte	CL:0000094	83.98	gold quality
muscle tissue	UBERON:0002385	83.97	gold quality
bone marrow cell	CL:0002092	83.74	gold quality
sural nerve	UBERON:0015488	83.73	gold quality
quadriceps femoris	UBERON:0001377	82.36	gold quality
vastus lateralis	UBERON:0001379	82.15	silver quality
pancreatic ductal cell	CL:0002079	82.14	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	81.81	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.73	gold quality
jejunum	UBERON:0002115	81.64	gold quality
biceps brachii	UBERON:0001507	81.52	gold quality
epithelium of nasopharynx	UBERON:0001951	81.47	gold quality
palpebral conjunctiva	UBERON:0001812	81.33	gold quality
parietal pleura	UBERON:0002400	81.24	gold quality
islet of Langerhans	UBERON:0000006	81.07	gold quality
jejunal mucosa	UBERON:0000399	81.06	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	96.18
E-ANND-3	yes	5.50
E-MTAB-6678	yes	5.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting WHAMM, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-762	99.58	66.61	1994

Literature-anchored findings (GeneRIF, showing 7)

• results give rise to a model whereby distinct MT-bound and actin-nucleating populations of WHAMM collaborate during membrane tubulation (PMID:23027905)
• Data show that RhoD binds the actin nucleation-promoting factor WHAMM (WASp homologue associated with actin Golgi membranes and microtubules), as well as the related filamin A-binding protein FILIP1. (PMID:23087206)
• WHAMM directs the Arp2/3 complex to the endoplasmic reticulum for autophagosome biogenesis through an actin comet tail mechanism. (PMID:26096974)
• WHAMM is required for autophagic lysosome reformation. WHAMM works as an actin nucleation promoting factor which promotes assembly of an actin scaffold on the surface of the autolysosome to promote autolysosome tabulation. (PMID:31420534)
• An actin-WHAMM interaction linking SETD2 and autophagy. (PMID:33036756)
• The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis. (PMID:33872315)
• WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration. (PMID:38598293)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000103011
mus_musculus	Whamm	ENSMUSG00000045795
rattus_norvegicus	Whamm	ENSRNOG00000028113

Paralogs (2): PRR11 (ENSG00000068489), JMY (ENSG00000152409)

Protein

Protein identifiers

WASP homolog-associated protein with actin, membranes and microtubules — Q8TF30 (reviewed: Q8TF30)

Alternative names: WAS protein homology region 2 domain-containing protein 1

All UniProt accessions (1): Q8TF30

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of Golgi positioning and morphology. Participates in vesicle transport between the reticulum endoplasmic and the Golgi complex. Required for RhoD-dependent actin reorganization such as in cell adhesion and cell migration.

Subunit / interactions. Interacts with ACTR3; indicative for an association with the ARP2/3 complex. Associates with microtubules; in vitro binds to tubulin heterodimer in a 1:1 stoichiometry; decorates microtubules with a repeat of 80 A along protofilaments. Interacts with RHOD (in GTP-bound form).

Subcellular location. Cytoplasm. Endoplasmic reticulum-Golgi intermediate compartment. Cytoplasmic vesicle membrane. Golgi apparatus. cis-Golgi network.

Tissue specificity. Expressed in brain, lung, heart, colon and kidney (at protein level).

Domain organisation. The N-terminal region associates with membranes, the coiled-coil region binds to microtubules and the WH2 domains promotes actin nucleation.

RefSeq proteins (1): NP_001073904* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003124	WH2_dom	Domain
IPR031738	JMY/WHAMM	Domain
IPR031808	JMY/WHAMM_N	Domain

Pfam: PF15871, PF15920

UniProt features (29 total): region of interest 8, sequence variant 6, compositionally biased region 5, coiled-coil region 4, domain 2, modified residue 2, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5X1G	ELECTRON MICROSCOPY	4.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TF30-F1	73.76	0.41

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 606, 795

Mutagenesis-validated functional residues (1):

Position	Phenotype
807	decreases nucleation-promoting factor activity and arp2/3 complex activation.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9013405	RHOD GTPase cycle

MSigDB gene sets: 149 (showing top): GOBP_REGULATION_OF_ACTIN_NUCLEATION, GOBP_FOCAL_ADHESION_ASSEMBLY, GOBP_PLASMA_MEMBRANE_ORGANIZATION, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_POSITIVE_REGULATION_OF_ACTIN_NUCLEATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_LAMELLIPODIUM_ORGANIZATION

GO Biological Process (7): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), actin filament organization (GO:0007015), lamellipodium assembly (GO:0030032), Arp2/3 complex-mediated actin nucleation (GO:0034314), focal adhesion assembly (GO:0048041), positive regulation of actin nucleation (GO:0051127), plasma membrane tubulation (GO:0097320)

GO Molecular Function (4): actin binding (GO:0003779), microtubule binding (GO:0008017), small GTPase binding (GO:0031267), Arp2/3 complex binding (GO:0071933)

GO Cellular Component (10): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), cytosol (GO:0005829), microtubule (GO:0005874), cytoplasmic vesicle membrane (GO:0030659), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	5
cellular anatomical structure	3
actin nucleation	2
bounding membrane of organelle	2
intracellular membrane-bounded organelle	2
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
lamellipodium organization	1
plasma membrane bounded cell projection assembly	1
cell-substrate junction assembly	1
cell-matrix adhesion	1
regulation of actin nucleation	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
plasma membrane organization	1
cytoskeletal protein binding	1
tubulin binding	1
GTPase binding	1
protein-containing complex binding	1
Golgi apparatus	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
vesicle membrane	1
cytoplasmic vesicle	1
endoplasmic reticulum-Golgi intermediate compartment	1
endomembrane system	1
intracellular vesicle	1

Protein interactions and networks

STRING

1072 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WHAMM	WAS	P42768	871
WHAMM	WASF1	Q92558	838
WHAMM	GOLGA2	Q08379	749
WHAMM	RHOD	O00212	661
WHAMM	FILIP1	Q7Z7B0	587
WHAMM	WASF2	Q9Y6W5	581
WHAMM	AP3B2	Q13367	571
WHAMM	ABHD12B	Q7Z5M8	571
WHAMM	CFL2	Q9Y281	568
WHAMM	CFL1	P23528	567
WHAMM	BRK1	Q8WUW1	540
WHAMM	WASF3	Q9UPY6	516
WHAMM	WASHC3	Q9Y3C0	510
WHAMM	HCLS1	P14317	491
WHAMM	CTTN	Q14247	488

IntAct

13 interactions, top by confidence:

A	B	Type	Score
RAB39B	CBL	psi-mi:“MI:0914”(association)	0.530
WHAMM		psi-mi:“MI:0915”(physical association)	0.460
WHAMM		psi-mi:“MI:0403”(colocalization)	0.460
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ACTG1	ENAH	psi-mi:“MI:0914”(association)	0.350
RAB43	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
TXLNA	CENPF	psi-mi:“MI:0914”(association)	0.350
CDC5L	WHAMM	psi-mi:“MI:0915”(physical association)	0.000
ITSN1	WHAMM	psi-mi:“MI:0915”(physical association)	0.000
TTC3	WHAMM	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): WHAMM (Affinity Capture-MS), WHAMM (Affinity Capture-MS), WHAMM (Proximity Label-MS), WHAMM (Affinity Capture-MS), WHAMM (Affinity Capture-MS), WHAMM (Affinity Capture-MS), WHAMM (Affinity Capture-MS), WHAMM (Affinity Capture-MS), WHAMM (Two-hybrid), WHAMM (Two-hybrid), WHAMM (Affinity Capture-RNA), WHAMM (Proximity Label-MS), WHAMM (Proximity Label-MS)

ESM2 similar proteins: A0JNG4, A1L3T7, B1AVH7, B5DFA1, D2H0G5, E1U8D0, E9QHE3, I1VZH0, O08629, O60826, O75052, O94964, P58660, P86182, P98171, Q13263, Q149G0, Q1LWB0, Q1RMI8, Q3ULW6, Q3V3A7, Q571B6, Q58D79, Q5JV73, Q5R8S0, Q62318, Q6P4K6, Q6PGG2, Q6ZQ29, Q6ZRF8, Q768S4, Q7TSI1, Q80TQ5, Q8BL43, Q8C7B8, Q8IWE5, Q8K1S6, Q8N163, Q8TF30, Q8VDP4

Diamond homologs: A8E4X8, Q1A5X7, Q571B6, Q6NVC9, Q8N9B5, Q8TF30, Q9QXM1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
WHAMM	“up-regulates activity”	ARP2/3	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

109 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1951 predictions. Top by Δscore:

Variant	Effect	Δscore
15:82810333:CAGGT:C	donor_loss	1.0000
15:82810336:GT:G	donor_loss	1.0000
15:82810337:T:G	donor_loss	1.0000
15:82811352:G:GT	donor_gain	1.0000
15:82813090:ATTT:A	acceptor_gain	1.0000
15:82813101:A:AG	acceptor_gain	1.0000
15:82813101:AG:A	acceptor_gain	1.0000
15:82813102:G:GT	acceptor_gain	1.0000
15:82813102:GG:G	acceptor_gain	1.0000
15:82813102:GGT:G	acceptor_gain	1.0000
15:82813102:GGTT:G	acceptor_gain	1.0000
15:82813102:GGTTA:G	acceptor_gain	1.0000
15:82813181:G:GT	donor_gain	1.0000
15:82813213:G:GG	donor_gain	1.0000
15:82813234:GGC:G	donor_gain	1.0000
15:82813244:G:GT	donor_gain	1.0000
15:82813260:G:GG	donor_gain	1.0000
15:82816686:CTGTA:C	acceptor_loss	1.0000
15:82816687:TGTA:T	acceptor_loss	1.0000
15:82816688:GTAGA:G	acceptor_loss	1.0000
15:82816690:A:AG	acceptor_gain	1.0000
15:82816691:G:C	acceptor_loss	1.0000
15:82816691:G:GA	acceptor_gain	1.0000
15:82816691:GA:G	acceptor_gain	1.0000
15:82816691:GAA:G	acceptor_gain	1.0000
15:82816691:GAAGT:G	acceptor_gain	1.0000
15:82816797:G:GT	donor_gain	1.0000
15:82816806:G:GG	donor_gain	1.0000
15:82816827:G:GG	donor_gain	1.0000
15:82816839:GCAGG:G	donor_loss	1.0000

AlphaMissense

5253 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:82826809:G:C	R535P	0.995
15:82809814:T:C	F30L	0.993
15:82809815:T:C	F30S	0.993
15:82809816:C:A	F30L	0.993
15:82809816:C:G	F30L	0.993
15:82826808:C:A	R535S	0.991
15:82809848:T:C	F41S	0.989
15:82826830:T:C	L542S	0.988
15:82826827:G:C	R541P	0.987
15:82809760:T:A	W12R	0.981
15:82809760:T:C	W12R	0.981
15:82809847:T:C	F41L	0.978
15:82809849:C:A	F41L	0.978
15:82809849:C:G	F41L	0.978
15:82816815:T:C	F303L	0.977
15:82816817:T:A	F303L	0.977
15:82816817:T:G	F303L	0.977
15:82809848:T:G	F41C	0.976
15:82817955:T:C	F324L	0.975
15:82817957:T:A	F324L	0.975
15:82817957:T:G	F324L	0.975
15:82809762:G:C	W12C	0.973
15:82809762:G:T	W12C	0.973
15:82810180:T:C	Y152H	0.966
15:82826821:T:C	L539P	0.965
15:82833346:T:C	I747T	0.965
15:82823244:G:C	R472P	0.964
15:82809826:T:A	W34R	0.961
15:82809826:T:C	W34R	0.961
15:82809854:T:A	V43E	0.961

dbSNP variants (sampled 300 via entrez): RS1000019937 (15:82832654 C>T), RS1000053567 (15:82829410 A>C,G), RS1000078693 (15:82808340 A>G), RS1000216909 (15:82825890 C>G), RS1000363922 (15:82832297 A>G), RS1000393073 (15:82831910 T>C), RS1000537285 (15:82835794 T>A), RS1000728897 (15:82832353 G>A,C,T), RS1000821655 (15:82835572 C>T), RS1000844679 (15:82808976 T>C), RS1000879808 (15:82815810 G>A), RS1000977794 (15:82836447 G>A,T), RS1000978635 (15:82809151 A>C), RS1001003350 (15:82821829 C>T), RS1001171085 (15:82812956 G>A,T)

Disease associations

OMIM: gene MIM:612393 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007277_21	Tourette syndrome	7.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	decreases methylation, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
zinc chromate	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
cylindrospermopsin	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Air Pollutants, Occupational	increases expression	1
Arsenic	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	increases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1

Cellosaurus cell lines

6 cell lines: 4 cancer cell line, 1 transformed cell line, 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_IW09	GM25245	Transformed cell line	Female
CVCL_JF29	GM25246	Finite cell line	Female
CVCL_TX97	HAP1 WHAMM (-) 1	Cancer cell line	Male
CVCL_TX98	HAP1 WHAMM (-) 2	Cancer cell line	Male
CVCL_TX99	HAP1 WHAMM (-) 3	Cancer cell line	Male
CVCL_TY00	HAP1 WHAMM (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

75 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists