ID   HCM HJ 1-i
AC   CVCL_T925
SY   HCM HJ; HCM 3
DR   SKIP; SKIP000213
DR   SKIP; SKIP000583
DR   Wikidata; Q54881885
RX   PubMed=25389285;
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Gly999_Gln1004del; Zygosity=Unspecified (PubMed=25389285).
CC   Discontinued: SKIP; SKIP000213; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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)
OI   CVCL_T926 ! HCM HJ 1-n
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 10
//
RX   PubMed=25389285; DOI=10.1161/JAHA.114.001263; PMCID=PMC4338713;
RA   Tanaka A., Yuasa S., Mearini G., Egashira T., Seki T., Kodaira M.,
RA   Kusumoto D., Kuroda Y., Okata S., Suzuki T., Inohara T., Arimura T.,
RA   Makino S., Kimura K., Kimura A., Furukawa T., Carrier L., Node K.,
RA   Fukuda K.;
RT   "Endothelin-1 induces myofibrillar disarray and contractile vector
RT   variability in hypertrophic cardiomyopathy-induced pluripotent stem
RT   cell-derived cardiomyocytes.";
RL   J. Am. Heart Assoc. 3:e001263.1-e001263.25(2014).
//