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Cellosaurus EURACi007-A (CVCL_A0LV)

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Cell line name EURACi007-A
Synonyms PZE#8
Accession CVCL_A0LV
Resource Identification Initiative To cite this cell line use: EURACi007-A (RRID:CVCL_A0LV)
Comments From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Asn346Leufs*12 (c.1035-5203_1171-13298del); Zygosity=Heterozygous (PubMed=34298432).
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 Female
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=34298432; DOI=10.1016/j.scr.2021.102466
Viviana Meraviglia, Giada Cattelan, Marzia De Bortoli, Benedetta Maria Motta, Claudia Beu Volpato, Laura-Sophie Frommelt, Werner Rauhe, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Alessandra Rossini;
Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation.
Stem Cell Res. 55:102466-102466(2021)

Cross-references
Cell line databases/resources hPSCreg; EURACi007-A
Encyclopedic resources Wikidata; Q108820202
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5