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

Benedetta Ermon; Claudia B. Volpato; Giada Cattelan; Rosamaria Silipigni; Marina Di Segni; Chiara Cantaloni; Michela Casella; Peter P. Pramstaller; Giulio Pompilio; Elena Sommariva; Viviana Meraviglia; Alessandra Rossini

Stem Cell Research (Oct 2018)

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

Benedetta Ermon,
Claudia B. Volpato,
Giada Cattelan,
Rosamaria Silipigni,
Marina Di Segni,
Chiara Cantaloni,
Michela Casella,
Peter P. Pramstaller,
Giulio Pompilio,
Elena Sommariva,
Viviana Meraviglia,
Alessandra Rossini

Affiliations

Benedetta Ermon: Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany
Claudia B. Volpato: Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany
Giada Cattelan: Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany
Rosamaria Silipigni: Laboratory of Medical Genetics, Fondazione IRCCS Ca´ Granda, Ospedale Maggiore Policlinico, Milano, Italy
Marina Di Segni: Laboratory of Medical Genetics, Fondazione IRCCS Ca´ Granda, Ospedale Maggiore Policlinico, Milano, Italy
Chiara Cantaloni: Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany
Michela Casella: Cardiac Arrhythmia Research Centre, Centro Cardiolologico Monzino, IRCCS, 20138 Milano, Italy
Peter P. Pramstaller: Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany
Giulio Pompilio: Vascular Biology and Regenerative Medicine Unit, Centro Cardiologico Monzino, IRCCS, 20138 Milano, Italy; Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, 20122 Milano, Italy
Elena Sommariva: Vascular Biology and Regenerative Medicine Unit, Centro Cardiologico Monzino, IRCCS, 20138 Milano, Italy
Viviana Meraviglia: Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany; Corresponding authors at: Institute for Biomedicine, Eurac Research, via Galvani 31, 39100 Bolzano, Italy.
Alessandra Rossini: Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany; Corresponding authors at: Institute for Biomedicine, Eurac Research, via Galvani 31, 39100 Bolzano, Italy.

Journal volume & issue: Vol. 32
pp. 78 – 82

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal