Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50


Arrhythmogenic Cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias and fibro-fatty replacement in the ventricular myocardium. Causative mutations are mainly reported in desmosomal genes, especially in plakophilin2 (PKP2). Here, using a virus-free reprogramming approach, we generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of one ACM patient carrying the frameshift heterozygous PKP2 mutation c.2569_3018del50. The iPSC line (EURACi004-A) showed the typical morphology of pluripotent cells, possessed normal karyotype and exhibited pluripotency markers and trilineage differentiation potential, including cardiomyogenic capability. Thus, this line can represent a human in vitro model to study the molecular basis of ACM. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ermon B, Volpato CB, Cattelan G, Silipigni R, Di Segni M, Cantaloni C, Casella M, Pramstaller PP, Pompilio G, Sommariva E, Meraviglia V, Rossini A
Journal Stem cell research
Publication Date 2018 Oct;32:78-82
PubMed 30219716
PubMed Central PMC6189521
DOI 10.1016/j.scr.2018.09.003

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