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


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Meraviglia V, Cattelan G, De Bortoli M, Motta BM, Volpato C, Frommelt LS, Rauhe W, Di Segni M, Silipigni R, Pramstaller PP, Rossini A
Journal Stem cell research
Publication Date 2021 Aug;55:102466
PubMed 34298432
DOI 10.1016/j.scr.2021.102466

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