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Cellosaurus SCVIi062-A (CVCL_C1S9)

[Text version]
Cell line name SCVIi062-A
Synonyms SCVI2150c1
Accession CVCL_C1S9
Resource Identification Initiative To cite this cell line use: SCVIi062-A (RRID:CVCL_C1S9)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11167; SNTA1; Simple; p.Glu363Ala (c.1088A>C); ClinVar=VCV000190918; Zygosity=Heterozygous (PubMed=36528013).
Disease Long QT syndrome 12 (NCIt: C192202)
Familial long QT syndrome (ORDO: Orphanet_768)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=36528013; DOI=10.1016/j.scr.2022.103003; PMCID=PMC10029814
Jimenez-Tellez N., Vera C.D., Yildirim Z., Guevara J.V., Zhang T., Wu J.C.
Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants.
Stem Cell Res. 66:103003-103003(2023)

Cross-references
Cell line databases/resources hPSCreg; SCVIi062-A
Biological sample resources BioSamples; SAMEA110266499
Encyclopedic resources Wikidata; Q114312976
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4