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Cellosaurus EURACi008-A (CVCL_A0LW)

[Text version]

Cell line name EURACi008-A
Synonyms PZG#4
Accession CVCL_A0LW
Resource Identification Initiative To cite this cell line use: EURACi008-A (RRID:CVCL_A0LW)
Comments From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
Population: Caucasian.
Characteristics: While harboring the same PKP2 mutation as a family member from which EURACi007-A (CVCL_A0LV) was derived, the donor of this cell line did not show any symptom of arrhythmogenic right ventricular dysplasia.
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).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 67Y
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; EURACi008-A
Encyclopedic resources Wikidata; Q108820203
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2