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
Articolo
Data di Pubblicazione:
2018
Citazione:
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 / B. Ermon, C.B. Volpato, G. Cattelan, R. Silipigni, M. Di Segni, C. Cantaloni, M. Casella, P.P. Pramstaller, G. Pompilio, E. Sommariva, V. Meraviglia, A. Rossini. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 32(2018 Oct), pp. 78-82. [10.1016/j.scr.2018.09.003]
Abstract:
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.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
B. Ermon, C.B. Volpato, G. Cattelan, R. Silipigni, M. Di Segni, C. Cantaloni, M. Casella, P.P. Pramstaller, G. Pompilio, E. Sommariva, V. Meraviglia, A. Rossini
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