Cellosaurus cell line ZJUi012-A (CVCL

Cross-references
Cell line name	ZJUi012-A
Synonyms	ZYLMYBPC3iPS; ZYL-iPSC-C2; ZJULLi004-A
Accession	CVCL_C0IM
Resource Identification Initiative	To cite this cell line use: ZJUi012-A (RRID:CVCL_C0IM)
Comments	From: Zhejiang University School of Medicine; Hangzhou; China. Population: Chinese; Han. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Ala1255Asp (c.3764C>A); ClinVar=VCV000179227; Zygosity=Heterozygous (PubMed=36041398).
Disease	Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	60Y
Category	Induced pluripotent stem cell
Publications	PubMed=36041398; DOI=10.1016/j.scr.2022.102898 Ya-Xun Sun, Jing-Jun Zhou, Hong-Kun Wang, Hao Wang, Xian-Zhen Chen, Ting-Yu Gong, Ping Liang, Chen-Yang Jiang; Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation. Stem Cell Res. 64:102898-102898(2022)
Cell line databases/resources	hPSCreg; ZJUi012-A
Biological sample resources	BioSamples; SAMEA14430505
Encyclopedic resources	Wikidata; Q112930594
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6