ID   ICSSUi006-A
AC   CVCL_D6NW
SY   hiPSCs-TNNT2c.A553G; hiPSCs-cTnTp.K185E
DR   BioSamples; SAMEA115432439
DR   hPSCreg; ICSSUi006-A
RX   PubMed=38861774;
CC   From: Institute for Cardiovascular Science of Soochow University; Suzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:11949; TNNT2; Simple; p.Lys185Glu (c.553A>G); ClinVar=VCV002682717; Zygosity=Heterozygous (PubMed=38861774).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142892; Familial hypertrophic cardiomyopathy type 2
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
DI   NCIt; C84673; Dilated cardiomyopathy
DI   ORDO; Orphanet_217604; Dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=38861774; DOI=10.1016/j.scr.2024.103467;
RA   Ye L.-Q., Ni B.-Q., Wu H.-C., Han X.-L., Li H.-D., Liu J.-W., Hu S.-J.,
RA   Lei W.;
RT   "Establishment of a human induced pluripotent stem cell line from a
RT   patient with dilated cardiomyopathy.";
RL   Stem Cell Res. 78:103467-103467(2024).
//