Generation of iPSC lines (ICHi001-A, ICHi002-A, ICHi003-A, ICHi004-A) from four patients carrying Titin truncating variants associated with dilated cardiomyopathy
Inherited dilated cardiomyopathy (iDCM) is a disease of the heart muscle, characterized by left ventricle enlargement, systolic dysfunction and arrhythmias. iDCM represents a common cause of heart failure and the most frequent cause of heart transplantation. Among the causative genes, TTN, encoding the sarcomeric protein Titin, represents the most prevalent (about 25 % of cases). The heterogeneous clinical manifestations and variable response to therapy represent a major challenge in patients' clinical management. To deepen the knowledge of this disease, we generated and fully characterized induced Pluripotent Stem Cell lines from 4 iDCM patients carrying 4 different truncating variants of TTN gene.
Authors
- Camilla Galli (ORCID: https://orcid.org/0000-0002-8447-0389)
- Cecilia Thairi (ORCID: https://orcid.org/0000-0001-9332-7771)
- Marianna Paulis (ORCID: https://orcid.org/0000-0001-7803-9982)
- Rebecca Artioli
- Matteo Dal Ferro (ORCID: https://orcid.org/0000-0002-2310-0448)
- Chiara Collesi (ORCID: https://orcid.org/0000-0003-3909-422X)
- Elisa Di Pasquale (ORCID: https://orcid.org/0000-0003-2373-5635)
- Alessia Paldino (ORCID: https://orcid.org/0000-0002-5823-3777)
- Gianfranco Sinagra
- Ilenia Marino
- Simon Cotič
Institutions
- Humanitas University (IT)
- ERN GUARD-Heart (NL)
- IRCCS Humanitas Research Hospital (IT)
- Azienda Sanitaria Universitaria Integrata di Trieste (IT)
- International Centre for Genetic Engineering and Biotechnology (IT)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-04-20
- DOI
- https://doi.org/10.1016/j.scr.2025.103719
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute