ID   XACHi004-A
AC   CVCL_YM77
DR   BioSamples; SAMEA111507229
DR   hPSCreg; XACHi004-A
DR   Wikidata; Q98135109
RX   PubMed=36335801;
CC   From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Val4880Ile (c.14638G>A); ClinVar=VCV001439521; Zygosity=Heterozygous (PubMed=36335801).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C50466; Atrial fibrillation
DI   ORDO; Orphanet_334; Familial atrial fibrillation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=36335801; DOI=10.1016/j.scr.2022.102955;
RA   Zhou Y.-F., Jiang C.-S., Wang J., Huang W.-J., Zhang Y.-M.,
RA   Zhou R.;
RT   "Generation of one human induced pluripotent stem cell line
RT   (XACHi004-A) with heterozygous mutation of RYR2 gene from an atrial
RT   fibrillation patient.";
RL   Stem Cell Res. 65:102955-102955(2022).
//