Cellosaurus cell line SCVIi007-A (CVCL

Cross-references
Cell line name	SCVIi007-A
Synonyms	SCVI-216; SCVI 216; SCVI216
Accession	CVCL_A7KM
Resource Identification Initiative	To cite this cell line use: SCVIi007-A (RRID:CVCL_A7KM)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Arg1712Gln (c.5135G>A); ClinVar=VCV000036642; Zygosity=Heterozygous (PubMed=34352619).
Disease	Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	32Y
Category	Induced pluripotent stem cell
Publications	PubMed=34352619; DOI=10.1016/j.scr.2021.102455; PMCID=PMC10339835 Cao X., Jahng J.W.S., Lee C., Zha Y.-J., Wheeler M.T., Sallam K., Wu J.C. Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations. Stem Cell Res. 55:102455-102455(2021)
Cell line databases/resources	hPSCreg; SCVIi007-A
Encyclopedic resources	Wikidata; Q107116875
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5