Cellosaurus cell line HCM HJ 1-i (CVCL

Cellosaurus HCM HJ 1-i (CVCL_T925)

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 Atsushi Tanaka, Shinsuke Yuasa, Giulia Mearini, Toru Egashira, Tomohisa Seki, Masaki Kodaira, Dai Kusumoto, Yusuke Kuroda, Shinichiro Okata, Tomoyuki Suzuki, Taku Inohara ...Show all 19 authors... , Takuro Arimura, Shinji Makino, Kensuke Kimura, Akinori Kimura, Tetsushi Furukawa, Lucie Carrier, Koichi Node, Keiichi Fukuda; Show fewer authors 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