Cellosaurus cell line XACHi004-A (CVCL

Cross-references
Cell line name	XACHi004-A
Accession	CVCL_YM77
Resource Identification Initiative	To cite this cell line use: XACHi004-A (RRID:CVCL_YM77)
Comments	From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Val4880Ile (c.14638G>A); ClinVar=VCV001439521; Zygosity=Heterozygous (PubMed=36335801).
Disease	Atrial fibrillation (NCIt: C50466) Familial atrial fibrillation (ORDO: Orphanet_334)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=36335801; DOI=10.1016/j.scr.2022.102955 Zhou Y.-F., Jiang C.-S., Wang J., Huang W.-J., Zhang Y.-M., Zhou R. Generation of one human induced pluripotent stem cell line (XACHi004-A) with heterozygous mutation of RYR2 gene from an atrial fibrillation patient. Stem Cell Res. 65:102955-102955(2022)
Cell line databases/resources	hPSCreg; XACHi004-A
Biological sample resources	BioSamples; SAMEA111507229
Encyclopedic resources	Wikidata; Q98135109
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	6