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Cellosaurus INEUi002-A-1 (CVCL_C9LG)

[Text version]
Cell line name INEUi002-A-1
Synonyms PKP2 S140F
Accession CVCL_C9LG
Resource Identification Initiative To cite this cell line use: INEUi002-A-1 (RRID:CVCL_C9LG)
Comments From: Instituto de Neurociencias; Buenos Aires; Argentina.
Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
Cell type: Fibroblast of foreskin; CL=CL_1001608.
Sequence variations
  • Mutation; HGNC; HGNC:9024; PKP2; Simple_edited; p.Ser140Phe (c.419C>T); ClinVar=VCV000045077; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37393721).
Disease Familial arrhythmogenic right ventricular dysplasia 9 (NCIt: C173471)
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form (ORDO: Orphanet_293910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DQ93 (INEUi002-A)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=37393721; DOI=10.1016/j.scr.2023.103157
Amin G., Castaneda S.L., Zabalegui F., Belli C., Atorrasagasti C., Miriuka S.G., Moro L.N.
Generation of two edited iPSCs lines by CRISPR/Cas9 with point mutations in PKP2 gene for arrhythmogenic cardiomyopathy in vitro modeling.
Stem Cell Res. 71:103157-103157(2023)

Cross-references
Cell line databases/resources hPSCreg; INEUi002-A-1
Encyclopedic resources Wikidata; Q123032702
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3