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 Amit Manhas, James Won Suk Jahng, Carlos D. Vera, Sushma P. Shenoy, Joshua Wiley Knowles, Joseph C. Wu; 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