Cellosaurus cell line HKUi002-A (CVCL

Cross-references
Cell line name	HKUi002-A
Synonyms	HKUi002-A-AYC12; AYC12
Accession	CVCL_ZA51
Resource Identification Initiative	To cite this cell line use: HKUi002-A (RRID:CVCL_ZA51)
Comments	From: Department of Paediatrics and Adolescent Medicine, University of Hong Kong; Hong Kong; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2928; DMD; Simple; c.31+1G>A; ClinVar=VCV001070319; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=33099108).
Disease	Dilated cardiomyopathy (NCIt: C84673) Dilated cardiomyopathy (ORDO: Orphanet_217604)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	23Y
Category	Induced pluripotent stem cell
Publications	PubMed=33099108; DOI=10.1016/j.scr.2020.102040 Zhu S., Law A.H.-Y., Deng R.-X., Poon E.N.-Y., Lo C.-W., Kwong A.K.-Y., Liang R., Chan K.Y.-K., Wong W.-L., Tan-Un K.-C., Pijnappel W.W.M.P., Chan G.C.-F., Chan S.H.-S. Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation. Stem Cell Res. 49:102040-102040(2020)
Cell line databases/resources	hPSCreg; HKUi002-A
Biological sample resources	BioSamples; SAMEA6880596
Encyclopedic resources	Wikidata; Q98126688
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8