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

doi:10.1016/j.scr.2018.09.003

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	78-82
Number of pages	5
Journal	Stem Cell Research
Volume	32
DOIs	https://doi.org/10.1016/j.scr.2018.09.003
Publication status	Published - Oct 2018

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Ermon, B., Volpato, C. B., Cattelan, G., Silipigni, R., Di Segni, M., Cantaloni, C., Casella, M., Pramstaller, P. P., Pompilio, G., Sommariva, E., Meraviglia, V., & Rossini, A. (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. Stem Cell Research, 32, 78-82. https://doi.org/10.1016/j.scr.2018.09.003

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 et al.

In: Stem Cell Research, Vol. 32, 10.2018, p. 78-82.

Research output: Contribution to journal › Article › peer-review

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 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', Stem Cell Research, vol. 32, pp. 78-82. https://doi.org/10.1016/j.scr.2018.09.003

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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",

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.",

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AU - Ermon, Benedetta

AU - Volpato, Claudia B

AU - Cattelan, Giada

AU - Silipigni, Rosamaria

AU - Di Segni, Marina

AU - Cantaloni, Chiara

AU - Casella, Michela

AU - Pramstaller, Peter P

AU - Pompilio, Giulio

AU - Sommariva, Elena

AU - Meraviglia, Viviana

AU - Rossini, Alessandra

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AB - 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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DO - 10.1016/j.scr.2018.09.003

M3 - Article

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SN - 1873-5061

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JO - Stem Cell Research

JF - Stem Cell Research

ER -

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

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