Cellosaurus cell line SCVIi036-A (CVCL

Cross-references
Cell line name	SCVIi036-A
Synonyms	SCVI-248; SCVI 248; SCVI248
Accession	CVCL_B6ZY
Resource Identification Initiative	To cite this cell line use: SCVIi036-A (RRID:CVCL_B6ZY)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Southeast Asian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Ile154Leufs*5 (c.459delC); ClinVar=VCV000042755; Zygosity=Heterozygous (PubMed=35413566). Mutation; HGNC; HGNC:9386; PRKAG2; Simple; p.Thr568Met (c.1703C>T); ClinVar=VCV000181464; Zygosity=Heterozygous (PubMed=35413566).
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)
Sex of cell	Male
Age at sampling	30Y
Category	Induced pluripotent stem cell
Publications	PubMed=35413566; DOI=10.1016/j.scr.2022.102774; PMCID=PMC9708393 Manhas A., Jahng J.W.S., Vera C.D., Shenoy S.P., Knowles J.W., Wu J.C. Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants. Stem Cell Res. 61:102774-102774(2022)
Cell line databases/resources	hPSCreg; SCVIi036-A
Biological sample resources	BioSamples; SAMEA13128358
Encyclopedic resources	Wikidata; Q112044528
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	5