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Cellosaurus SCVIi004-A (CVCL_A5FX)

[Text version]

Cell line name SCVIi004-A
Synonyms SCVI-410; SCVI410
Accession CVCL_A5FX
Resource Identification Initiative To cite this cell line use: SCVIi004-A (RRID:CVCL_A5FX)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 9024; PKP2; Simple; p.Arg79Ter (c.235C>T); ClinVar=VCV000006754; Zygosity=Heterozygous (PubMed=33743362).
Disease Familial arrhythmogenic right ventricular dysplasia 9 (NCIt: C173471)
Familial isolated arrhythmogenic right ventricular dysplasia (ORDO: Orphanet_217656)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=33743362; DOI=10.1016/j.scr.2021.102284
Jahng J.W.S., Black K.E., Liu L., Bae H.R., Perez M., Ashley E.A., Sallam K., Wu J.C.
Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.
Stem Cell Res. 53:102284-102284(2021)

Cross-references
Cell line databases/resources hPSCreg; SCVIi004-A
Other Wikidata; Q107116872
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2