ID   YCMi006-A
AC   CVCL_B6RI
DR   BioSamples; SAMEA12870538
DR   hPSCreg; YCMi006-A
DR   Wikidata; Q112041943
RX   PubMed=35917599;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 129; ACTA1; Simple; p.Ile343Met (c.1029C>G); ClinVar=VCV001306956; Zygosity=Heterozygous (PubMed=35917599).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34449; Hypertrophic cardiomyopathy
DI   ORDO; Orphanet_217569; Hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35917599; DOI=10.1016/j.scr.2022.102874;
RA   Kim H., Kim H.-J., Oh J., Lee S.-T., Won D., Choi H.-K., Choi J.R.,
RA   Kim S., Kim H.-P., Kim S.-J., Park S.W., Kang S.-M., Lee S.-H.;
RT   "An induced pluripotent stem cell line (YCMi006-A) generated from a
RT   patient with hypertrophic cardiomyopathy who carries the ACTA1
RT   mutation p.Ile343Met.";
RL   Stem Cell Res. 63:102874-102874(2022).
//