Cellosaurus cell line SCVIi006-A (CVCL

Cross-references
Cell line name	SCVIi006-A
Synonyms	SCVI-211; SCVI 211; SCVI211
Accession	CVCL_A7KL
Resource Identification Initiative	To cite this cell line use: SCVIi006-A (RRID:CVCL_A7KL)
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.Glu1356Lys (c.4066G>A); ClinVar=VCV000164294; 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	73Y
Category	Induced pluripotent stem cell
Publications	PubMed=34352619; DOI=10.1016/j.scr.2021.102455; PMCID=PMC10339835 Xu Cao, James Won Suk Jahng, Chelsea Lee, Yan-Jun Zha, Matthew T. Wheeler, Karim Sallam, Joseph C. Wu; 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; SCVIi006-A
Encyclopedic resources	Wikidata; Q107116874
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5