ID   MCCI0001i-HCM
AC   CVCL_QX48
DR   Wikidata; Q54904262
RX   PubMed=28395744;
CC   From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
CC   Sequence variation: Mutation; HGNC; HGNC:1391; CACNA1D; Simple; p.Glu827Lys (c.2479G>A) (p.Glu847Lys, c.2539G>A); ClinVar=VCV001371026; Zygosity=Heterozygous (PubMed=28395744).
CC   Sequence variation: Mutation; HGNC; HGNC:12582; UQCRB; Simple; p.Arg34Gln (c.101G>A) (p.Arg2Gln, c.5G>A); Zygosity=Heterozygous (PubMed=28395744).
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   62Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 10-04-25; Version: 13
//
RX   PubMed=28395744; DOI=10.1016/j.scr.2017.02.016;
RA   Ross S.B., Fraser S.T., Bagnall R.D., Semsarian C.;
RT   "Peripheral blood derived induced pluripotent stem cells (iPSCs) from
RT   a female with familial hypertrophic cardiomyopathy.";
RL   Stem Cell Res. 20:76-79(2017).
//