ID   MCCI0002i-HCM
AC   CVCL_QX49
DR   Wikidata; Q54904263
RX   PubMed=28395747;
CC   From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Val698Ala (c.2093T>C); ClinVar=VCV000042878; Zygosity=Heterozygous (PubMed=28395747).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=28395747
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 11,13
ST   D16S539: 13,14
ST   D18S51: 14,17
ST   D19S433: 12,15
ST   D21S11: 28,29
ST   D2S1338: 17
ST   D3S1358: 14,17
ST   D5S818: 11,12
ST   D7S820: 10,13
ST   D8S1179: 10,12
ST   FGA: 20,24
ST   Penta D: 11,15
ST   Penta E: 13
ST   TH01: 6,7,9.3
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C172092; Familial hypertrophic cardiomyopathy type 1
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
//
RX   PubMed=28395747; DOI=10.1016/j.scr.2017.02.015;
RA   Ross S.B., Fraser S.T., Nowak N., Semsarian C.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from a
RT   hypertrophic cardiomyopathy patient with the pathogenic variant
RT   p.Val698Ala in beta-myosin heavy chain (MYH7) gene.";
RL   Stem Cell Res. 20:88-90(2017).
//