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Cellosaurus EURACi007-A (CVCL_A0LV)

[Text version]

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 sampling site: Peripheral blood.
Sequence variations
  • Mutation; 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
Meraviglia V., Cattelan G., De Bortoli M., Motta B.M., Volpato C.B., Frommelt L.S., Rauhe W., Di Segni M., Silipigni R., Pramstaller P.P., Rossini A.
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 update16-Dec-2021
Version number2