ID   MCCI0003i-HCM
AC   CVCL_UG23
SY   IK1
DR   Wikidata; Q95985816
RX   PubMed=30316040;
CC   From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Arg502Trp (c.1504C>T); ClinVar=VCV000042540; Zygosity=Heterozygous (PubMed=30316040).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=30316040
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 14,15
ST   D16S539: 11,13.1
ST   D18S51: 17.2,18.2
ST   D21S11: 28,29.1
ST   D3S1358: 14,14.3
ST   D5S818: 15,16
ST   D7S820: 8.2,14
ST   D8S1179: 11,13
ST   FGA: 19,22.3
ST   Penta D: 9.4,12.4
ST   Penta E: 12,20.2
ST   TH01: 6.1,10
ST   TPOX: 8,9
ST   vWA: 15.2,18
DI   NCIt; C133725; Familial hypertrophic cardiomyopathy type 4
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=30316040; DOI=10.1016/j.scr.2018.10.009;
RA   Holliday M., Ross S.B., Lim S., Semsarian C.;
RT   "Generation of an induced pluripotent stem cell line from a
RT   hypertrophic cardiomyopathy patient with a pathogenic myosin binding
RT   protein C (MYBPC3) p.Arg502Trp mutation.";
RL   Stem Cell Res. 33:56-59(2018).
//