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

Viviana Meraviglia, Giada Cattelan, Marzia De Bortoli, Benedetta Maria Motta, Claudia Volpato, Laura Sophie Frommelt, Werner Rauhe, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Alessandra Rossini

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Abstract

Arrhythmogenic Cardiomyopathy (ACM) is a genetically based cardiomyopathy associated with ventricular arrhythmias and fibro-fatty substitution of cardiac tissue. It is characterized by incomplete penetrance. We generated human iPSCs by episomal reprogramming of blood cells from three members of the same family: the proband, affected by ACM and carrying the heterozygous plakophillin2 p.N346Lfs*12 mutation, one asymptomatic carrier of the same mutation and one apparently healthy control. hiPSCs were characterized according to standard protocols including karyotyping, pluripotency marker expression and differentiation towards the three germ layers. These hiPSC lines can be used to study the mechanisms of ACM incomplete penetrance in vitro.

Original languageEnglish
Article number102466
JournalStem Cell Research
Volume55
DOIs
Publication statusPublished - Aug 2021

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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