Cellosaurus cell line HCM HJ 1-i (CVCL

Cross-references
Cell line name	HCM HJ 1-i
Synonyms	HCM HJ; HCM 3
Accession	CVCL_T925
Resource Identification Initiative	To cite this cell line use: HCM HJ 1-i (RRID:CVCL_T925)
Comments	Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Gly999_Gln1004del; Zygosity=Unspecified (PubMed=25389285).
Disease	Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_T926 ! HCM HJ 1-n
Sex of cell	Female
Age at sampling	45Y
Category	Induced pluripotent stem cell
Publications	PubMed=25389285; DOI=10.1161/JAHA.114.001263; PMCID=PMC4338713 Tanaka A., Yuasa S., Mearini G., Egashira T., Seki T., Kodaira M., Kusumoto D., Kuroda Y., Okata S., Suzuki T., Inohara T., Arimura T., Makino S., Kimura K., Kimura A., Furukawa T., Carrier L., Node K., Fukuda K. Endothelin-1 induces myofibrillar disarray and contractile vector variability in hypertrophic cardiomyopathy-induced pluripotent stem cell-derived cardiomyocytes. J. Am. Heart Assoc. 3:e001263.1-e001263.25(2014)
Cell line databases/resources	SKIP; SKIP000213 - Discontinued SKIP; SKIP000583
Encyclopedic resources	Wikidata; Q54881885
Entry history
Entry creation	03-Feb-2014
Last entry update	19-Dec-2024
Version number	10