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Cellosaurus USFi004-A (CVCL_A6XG)

[Text version]

Cell line name USFi004-A
Synonyms 3IV6
Accession CVCL_A6XG
Resource Identification Initiative To cite this cell line use: USFi004-A (RRID:CVCL_A6XG)
Comments From: University of South Florida; Tampa; USA.
Population: Caribbean; Haitian and Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 9024; PKP2; Simple; p.Asp600Valfs*56 (c.1799delA); ClinVar=VCV000202020; Zygosity=Heterozygous (PubMed=34034221).
Disease Arrhythmogenic right ventricular dysplasia (NCIt: C84571)
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form (ORDO: Orphanet_293910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 41Y
Category Induced pluripotent stem cell

PubMed=34034221; DOI=10.1016/j.scr.2021.102398
Yang J.-J., Samal E., Burgos Angulo M., Bertalovitz A.C., McDonald T.V.
Establishment of an arrhythmogenic right ventricular cardiomyopathy derived iPSC cell line (USFi004-A) carrying a heterozygous mutation in PKP2 (c.1799delA).
Stem Cell Res. 54:102398-102398(2021)

Cell line databases/resources hPSCreg; USFi004-A
Biological sample resources BioSamples; SAMEA8717120
Other Wikidata; Q107117356
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2