Cellosaurus cell line ICSSUi004-A (CVCL

Cross-references
Cell line name	ICSSUi004-A
Synonyms	hiPSC-CRYAB-c.326A>G; hiPSC-CRYABD109G
Accession	CVCL_D6NU
Resource Identification Initiative	To cite this cell line use: ICSSUi004-A (RRID:CVCL_D6NU)
Comments	From: Institute for Cardiovascular Science of Soochow University; Suzhou; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2389; CRYAB; Simple; p.Asp109Gly (c.326A>G); ClinVar=VCV000265829; Zygosity=Heterozygous (PubMed=38428347).
Disease	Restrictive cardiomyopathy (NCIt: C62798) Restrictive cardiomyopathy (ORDO: Orphanet_217632)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	24Y
Category	Induced pluripotent stem cell
Publications	PubMed=38428347; DOI=10.1016/j.scr.2024.103370 Jing-Xian Li, Jin-Xiu Jiang, Ling-Qun Ye, Zhi-Peng Lian, Hui Gong, Wei Lei, Yu-Xiang Dai, Shi-Jun Hu; Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy. Stem Cell Res. 76:103370-103370(2024)
Cell line databases/resources	hPSCreg; ICSSUi004-A
Biological sample resources	BioSamples; SAMEA115064445
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2