ID   YCMi007-A
AC   CVCL_C1TI
SY   YCMi007-hDCM007-A
DR   BioSamples; SAMEA110188890
DR   hPSCreg; YCMi007-A
DR   Wikidata; Q114313267
RX   PubMed=36801602;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 11949; TNNT2; Simple; p.Arg205Trp (c.613C>T); ClinVar=VCV000180554; Zygosity=Heterozygous (PubMed=36801602).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198599; Dilated cardiomyopathy-1D
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36801602; DOI=10.1016/j.scr.2023.103048;
RA   Jeon S.-B., Kim H., Chun K.-H., Oh J., Kwon C., Choi H.-K., Kim S.,
RA   Kim H.-P., Kim I.-C., Yoo J.-Y., Park S.W., Kang S.-M., Lee S.-H.;
RT   "Human induced pluripotent stem cell line YCMi007-A generated from a
RT   dilated cardiomyopathy patient with a heterozygous dominant c.613C >
RT   T (p. Arg205Trp) variant of the TNNT2 gene.";
RL   Stem Cell Res. 67:103048-103048(2023).
//