ID   YCMi004-A
AC   CVCL_A0JS
SY   YCMi004-hDCM004-A
DR   BioSamples; SAMEA9405922
DR   hPSCreg; YCMi004-A
DR   Wikidata; Q108821545
RX   PubMed=34952434;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 12403; TTN; Simple; p.Arg23351Ter (c.70051C>T); ClinVar=VCV000405145; Zygosity=Heterozygous (PubMed=34952434).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C182078; Dilated cardiomyopathy-1G
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34952434; DOI=10.1016/j.scr.2021.102629;
RA   Lee S.-H., Oh J., Lee S.-T., Won D., Kim S., Choi H.-K., Kim S.-J.,
RA   Han H., Yoon M., Choi J.R., Yoon H.-G., Park S.W., Kang S.-M.,
RA   Lee S.-H.;
RT   "Generation of a human induced pluripotent stem cell line YCMi004-A
RT   from a patient with dilated cardiomyopathy carrying a
RT   protein-truncating mutation of the titin gene and its differentiation
RT   towards cardiomyocytes.";
RL   Stem Cell Res. 59:102629-102629(2022).
//