ID   SYSUi005-A
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; 11949; TNNT2; Simple; p.Pro77Ser (c.229C>T); Zygosity=Heterozygous (PubMed=34942479).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C142892; Familial hypertrophic cardiomyopathy type 2
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 17-03-22; Version: 3
RX   PubMed=34942479; DOI=10.1016/j.scr.2021.102626;
RA   Zhang C., Shi J., Zhang Z., Zhao Q.-Q., Xie M.-T., Chen Y.,
RA   Xiang Q.-L.;
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).