Cellosaurus logo
expasy logo

Cellosaurus SCVIi036-A (CVCL_B6ZY)

[Text version]
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; 7551; MYBPC3; Simple; p.Ile154Leufs*5 (c.459delC); ClinVar=VCV000042755; Zygosity=Heterozygous (PubMed=35413566).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; SCVIi036-A
Biological sample resources BioSamples; SAMEA13128358
Encyclopedic resources Wikidata; Q112044528
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number4