Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant
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.
Authors
- Sacri R. Ferrón (ORCID: https://orcid.org/0000-0003-0854-8575)
- Martina Calore (ORCID: https://orcid.org/0000-0003-4751-1476)
- Martina Rabino (ORCID: https://orcid.org/0000-0003-1416-931X)
- León J. De Windt (ORCID: https://orcid.org/0000-0002-7793-2856)
- Claudia Sacchetto
- Marianna Paulis (ORCID: https://orcid.org/0000-0001-7803-9982)
- Barbara Bauce (ORCID: https://orcid.org/0000-0001-7357-293X)
- Libero Vitiello (ORCID: https://orcid.org/0000-0003-0017-0838)
- Elisa Di Pasquale (ORCID: https://orcid.org/0000-0003-2373-5635)
- Alessandra Rampazzo (ORCID: https://orcid.org/0000-0003-3884-8843)
Institutions
- Humanitas University (IT)
- University of Padua (IT)
- Maastricht University (NL)
- IRCCS Humanitas Research Hospital (IT)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1016/j.scr.2025.103695
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fondazione Cassa di Risparmio di Padova e Rovigo
- HORIZON EUROPE Framework Programme