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,...

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Autores principales: Ermon, Benedetta, Volpato, Claudia B., Cattelan, Giada, Silipigni, Rosamaria, Di Segni, Marina, Cantaloni, Chiara, Casella, Michela, Pramstaller, Peter P., Pompilio, Giulio, Sommariva, Elena, Meraviglia, Viviana, Rossini, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189521/
https://www.ncbi.nlm.nih.gov/pubmed/30219716
http://dx.doi.org/10.1016/j.scr.2018.09.003
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author Ermon, Benedetta
Volpato, Claudia B.
Cattelan, Giada
Silipigni, Rosamaria
Di Segni, Marina
Cantaloni, Chiara
Casella, Michela
Pramstaller, Peter P.
Pompilio, Giulio
Sommariva, Elena
Meraviglia, Viviana
Rossini, Alessandra
author_facet Ermon, Benedetta
Volpato, Claudia B.
Cattelan, Giada
Silipigni, Rosamaria
Di Segni, Marina
Cantaloni, Chiara
Casella, Michela
Pramstaller, Peter P.
Pompilio, Giulio
Sommariva, Elena
Meraviglia, Viviana
Rossini, Alessandra
author_sort Ermon, Benedetta
collection PubMed
description 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.
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spelling pubmed-61895212018-10-18 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 Ermon, Benedetta Volpato, Claudia B. Cattelan, Giada Silipigni, Rosamaria Di Segni, Marina Cantaloni, Chiara Casella, Michela Pramstaller, Peter P. Pompilio, Giulio Sommariva, Elena Meraviglia, Viviana Rossini, Alessandra Stem Cell Res Article 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. Elsevier 2018-10 /pmc/articles/PMC6189521/ /pubmed/30219716 http://dx.doi.org/10.1016/j.scr.2018.09.003 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Ermon, Benedetta
Volpato, Claudia B.
Cattelan, Giada
Silipigni, Rosamaria
Di Segni, Marina
Cantaloni, Chiara
Casella, Michela
Pramstaller, Peter P.
Pompilio, Giulio
Sommariva, Elena
Meraviglia, Viviana
Rossini, Alessandra
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189521/
https://www.ncbi.nlm.nih.gov/pubmed/30219716
http://dx.doi.org/10.1016/j.scr.2018.09.003
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