ID   YCMi005-A
AC   CVCL_A0JT
SY   YCMi005-hDCM005-A
DR   BioSamples; SAMEA9903714
DR   hPSCreg; YCMi005-A
DR   Wikidata; Q108821547
RX   PubMed=35176663;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 12010; TPM1; Simple; p.Glu192Lys (c.574G>A); ClinVar=VCV000031882; Zygosity=Heterozygous (PubMed=35176663).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C182076; Familial hypertrophic cardiomyopathy type 3
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
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RX   PubMed=35176663; DOI=10.1016/j.scr.2022.102707;
RA   Cha Y.-J., Jeon S.-B., Oh J., Lee S.-T., Kim S., Kim H., Choi J.,
RA   Choi H.-K., Won D., Choi J.R., Kim S.-J., Park S.W., Kang S.-M.,
RA   Lee S.-H.;
RT   "Derivation of YCMi005-A, a human-induced pluripotent stem cell line,
RT   from a patient with dilated cardiomyopathy carrying missense variant
RT   in TPM1 (p.Glu192Lys).";
RL   Stem Cell Res. 60:102707-102707(2022).
//