ID   HCM HJ 1-n
AC   CVCL_T926
DR   SKIP; SKIP000212
DR   Wikidata; Q54881886
RX   PubMed=25389285;
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Gly999_Gln1004del; Zygosity=Unspecified (PubMed=25389285).
CC   Discontinued: SKIP; SKIP000212; 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_T925 ! HCM HJ 1-i
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).
//