ID   MCCI0004i-HCM
AC   CVCL_UJ68
SY   VG1
DR   Wikidata; Q95985817
RX   PubMed=30508693;
CC   From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Arg403Gln (c.1208G>A); ClinVar=VCV000014087; Zygosity=Heterozygous (PubMed=30508693).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=30508693
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 11,13
ST   D16S539: 9,12.2
ST   D18S51: 14,17
ST   D21S11: 29.1,30.1
ST   D3S1358: 15.3,16.2
ST   D5S818: 14,15
ST   D7S820: 10.3,12
ST   D8S1179: 14,15.3
ST   FGA: 20.3,22.3
ST   Penta D: 10
ST   Penta E: 11.4,14.4
ST   TH01: 7,9.3
ST   TPOX: 11
ST   vWA: 14,15.2
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   Female
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=30508693; DOI=10.1016/j.scr.2018.11.011;
RA   Holliday M., Ross S.B., Lim S., Mangala M.M., Hill A.,
RA   Cserne Szappanos H., Hool L.C., Semsarian C.;
RT   "Development of induced pluripotent stem cells from a patient with
RT   hypertrophic cardiomyopathy who carries the pathogenic myosin heavy
RT   chain 7 mutation p.Arg403Gln.";
RL   Stem Cell Res. 33:269-273(2018).
//