ID   YCMi003-A
AC   CVCL_A8NX
SY   YCMi003-hDCM003-A
DR   BioSamples; SAMEA9393124
DR   hPSCreg; YCMi003-A
DR   Wikidata; Q108821544
RX   PubMed=34438160;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Karyotypic information: 47,XYY (PubMed=34438160).
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Asp364His (c.1090G>C); Zygosity=Heterozygous (PubMed=34438160).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165596; Dilated cardiomyopathy-1A
DI   ORDO; Orphanet_300751; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=34438160; DOI=10.1016/j.scr.2021.102508;
RA   Oh J., Lee S.-H., Choi J., Choi J.R., Kim S., Cha Y.-J., Choi H.-K.,
RA   Won D., Yoon H.-G., Park S.W., Kang S.-M., Lee S.-T., Lee S.-H.;
RT   "Establishment of a novel human iPSC line (YCMi003-A) from a patient
RT   with dilated cardiomyopathy carrying genetic variant LMNA
RT   p.Asp364His.";
RL   Stem Cell Res. 56:102508-102508(2021).
//