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Cellosaurus SCVIi003-A (CVCL_A5FW)

[Text version]
Cell line name SCVIi003-A
Synonyms SCVI-385; SCVI 385; SCVI385
Accession CVCL_A5FW
Resource Identification Initiative To cite this cell line use: SCVIi003-A (RRID:CVCL_A5FW)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9024; PKP2; Simple; p.His733Alafs*8 (c.2197_2202delinsG) (p.His689fs, c.2065_2070delinsG); ClinVar=VCV000045063; 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 Male
Age at sampling 54Y
Category Induced pluripotent stem cell
Publications

PubMed=33743362; DOI=10.1016/j.scr.2021.102284
Jahng J.W.S., Black K.E., Liu L.-C., 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; SCVIi003-A
Encyclopedic resources Wikidata; Q107116871
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4