Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant

Claudia Sacchetto; Martina Rabino; Marianna Paulis; Sabina Ferron; Barbara Bauce; Libero Vitiello; Alessandra Rampazzo; Leon J. de Windt; Elisa Di Pasquale; Martina Calore

doi:10.1016/j.scr.2025.103695

Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant

Claudia Sacchetto, Martina Rabino, Marianna Paulis, Sabina Ferron, Barbara Bauce, Libero Vitiello, Alessandra Rampazzo, Leon J. de Windt, Elisa Di Pasquale, Martina Calore^*

^*Corresponding author for this work

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

Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias, risk of sudden cardiac death, and progressive fibro-fatty replacement in the myocardium. DSG2, encoding the desmosomal protein desmoglein-2, is one of the most frequently mutated genes in patients with ACM. We generated human induced pluripotent stem cells (hiPSCs) from epithelial renal cells of one ACM patient carrying the heterozygous nonsense DSG2 c.1672C > T mutation. The generated hiPSCs showed normal karyotype, expression of pluripotency markers, and trilineage differentiation potential. The reported line (UNIPDi006-A) might represent a useful tool for in vitro modeling of ACM.

Original language	English
Article number	103695
Number of pages	4
Journal	Stem Cell Research
Volume	85
Early online date	13 Mar 2025
DOIs	https://doi.org/10.1016/j.scr.2025.103695
Publication status	Published - Jun 2025

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Sacchetto, C., Rabino, M., Paulis, M., Ferron, S., Bauce, B., Vitiello, L., Rampazzo, A., de Windt, L. J., Di Pasquale, E., & Calore, M. (2025). Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant. Stem Cell Research, 85, Article 103695. https://doi.org/10.1016/j.scr.2025.103695

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title = "Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant",

abstract = "Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias, risk of sudden cardiac death, and progressive fibro-fatty replacement in the myocardium. DSG2, encoding the desmosomal protein desmoglein-2, is one of the most frequently mutated genes in patients with ACM. We generated human induced pluripotent stem cells (hiPSCs) from epithelial renal cells of one ACM patient carrying the heterozygous nonsense DSG2 c.1672C > T mutation. The generated hiPSCs showed normal karyotype, expression of pluripotency markers, and trilineage differentiation potential. The reported line (UNIPDi006-A) might represent a useful tool for in vitro modeling of ACM.",

author = "Claudia Sacchetto and Martina Rabino and Marianna Paulis and Sabina Ferron and Barbara Bauce and Libero Vitiello and Alessandra Rampazzo and \{de Windt\}, \{Leon J.\} and \{Di Pasquale\}, Elisa and Martina Calore",

year = "2025",

month = jun,

doi = "10.1016/j.scr.2025.103695",

language = "English",

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journal = "Stem Cell Research",

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T1 - Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant

AU - Sacchetto, Claudia

AU - Rabino, Martina

AU - Paulis, Marianna

AU - Ferron, Sabina

AU - Bauce, Barbara

AU - Vitiello, Libero

AU - Rampazzo, Alessandra

AU - de Windt, Leon J.

AU - Di Pasquale, Elisa

AU - Calore, Martina

PY - 2025/6

Y1 - 2025/6

N2 - Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias, risk of sudden cardiac death, and progressive fibro-fatty replacement in the myocardium. DSG2, encoding the desmosomal protein desmoglein-2, is one of the most frequently mutated genes in patients with ACM. We generated human induced pluripotent stem cells (hiPSCs) from epithelial renal cells of one ACM patient carrying the heterozygous nonsense DSG2 c.1672C > T mutation. The generated hiPSCs showed normal karyotype, expression of pluripotency markers, and trilineage differentiation potential. The reported line (UNIPDi006-A) might represent a useful tool for in vitro modeling of ACM.

AB - Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias, risk of sudden cardiac death, and progressive fibro-fatty replacement in the myocardium. DSG2, encoding the desmosomal protein desmoglein-2, is one of the most frequently mutated genes in patients with ACM. We generated human induced pluripotent stem cells (hiPSCs) from epithelial renal cells of one ACM patient carrying the heterozygous nonsense DSG2 c.1672C > T mutation. The generated hiPSCs showed normal karyotype, expression of pluripotency markers, and trilineage differentiation potential. The reported line (UNIPDi006-A) might represent a useful tool for in vitro modeling of ACM.

U2 - 10.1016/j.scr.2025.103695

DO - 10.1016/j.scr.2025.103695

M3 - Article

SN - 1873-5061

VL - 85

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 103695

ER -

Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant

Abstract

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