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Cellosaurus EURACi006-A-1 (CVCL_A0LU)

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Cell line name EURACi006-A-1
Synonyms iso M003#9.3-C12; LUMCi047-A-1
Accession CVCL_A0LU
Resource Identification Initiative To cite this cell line use: EURACi006-A-1 (RRID:CVCL_A0LU)
Comments From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9024; PKP2; Simple_corrected; p.Gly548Valfs*15 (c.1643delG); ClinVar=VCV000202035; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34134068).
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)
Hierarchy Parent: CVCL_A0LT (EURACi006-A)
Sex of cell Male
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=34134068; DOI=10.1016/j.scr.2021.102426
Viviana Meraviglia, Sravya Ganesh, Christiaan H. Arendzen, Christian M.A.H. Freund, Elena Sommariva, Alessandra Rossini, Milena Bellin;
Generation of human induced pluripotent stem cell line EURACi006-A and its isogenic gene-corrected line EURACi006-A-1 from an arrhythmogenic cardiomyopathy patient carrying the c.1643delG PKP2 mutation.
Stem Cell Res. 54:102426-102426(2021)

Cross-references
Cell line databases/resources hPSCreg; EURACi006-A-1
Encyclopedic resources Wikidata; Q108820201
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6