ID   SYSUi005-A
AC   CVCL_B0W6
DR   BioSamples; SAMEA10129971
DR   hPSCreg; SYSUi005-A
DR   Wikidata; Q108821352
RX   PubMed=34942479;
CC   From: Center for Stem Cell Biology and Tissue Engineering, Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:11949; TNNT2; Simple; p.Pro77Ser (c.229C>T); Zygosity=Heterozygous (PubMed=34942479).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142892; Familial hypertrophic cardiomyopathy type 2
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34942479; DOI=10.1016/j.scr.2021.102626;
RA   Zhang, Chi
RA   Shi, Jian
RA   Zhang, Zhen
RA   Zhao, Qian-Qian
RA   Xie, Man-Ting
RA   Chen, Ying
RA   Xiang, Qiu-Ling
RT   "Generation of an induced pluripotent stem cell line (SYSUi005-A) from
RT   a patient with hypertrophic cardiomyopathy.";
RL   Stem Cell Res. 58:102626-102626(2022).
//