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Cellosaurus UKJi001-A (CVCL_E7UQ)

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Cell line name UKJi001-A
Synonyms PKP2-hiPSC
Accession CVCL_E7UQ
Resource Identification Initiative To cite this cell line use: UKJi001-A (RRID:CVCL_E7UQ)
Comments From: Klinik fur Innere Medizin I (KIM I), Universitatsklinikum Jena (UKJ); Jena; Germany.
Population: Caucasian.
Donor information: At sampling donor was not affected with ARVC.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Gln62Ter (c.184C>T); Zygosity=Heterozygous (PubMed=39332132).
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 32Y
Category Induced pluripotent stem cell
Publications

PubMed=39332132; DOI=10.1016/j.scr.2024.103565
Mohamed M. Bekhite, Sascha Hubner, Tom Kretzschmar, Claudia Backsch, Anja Weise, Elisabeth Klein, Juergen Bogoviku, Julian Georg Westphal, Paul Christian Schulze;
Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene.
Stem Cell Res. 81:103565-103565(2024)

Cross-references
Cell line databases/resources hPSCreg; UKJi001-A
Biological sample resources BioSamples; SAMEA115717852
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1