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Generation of iPSC lines (ICHi001-A, ICHi002-A, ICHi003-A, ICHi004-A) from four patients carrying Titin truncating variants associated with dilated cardiomyopathy

Year: 2025
Type: article
Abstract: 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.
DOI: 10.1016/j.scr.2025.103719
Authors: Cecilia Thairi, Rebecca Artioli, Marianna Paulis, Camilla Galli, Simon Cotič, Alessia Paldino, Ilenia Marino, Gianfranco Sinagra, Chiara Collesi, Matteo Dal Ferro, Elisa Di Pasquale
Institutions: IRCCS Humanitas Research Hospital, University of Trieste, International Centre for Genetic Engineering and Biotechnology, National Research Council, Azienda sanitaria universitaria Giuliano Isontina, ERN GUARD-Heart
Language: English
Open Access status: gold
Estimated APC paid: $2,360
OpenAlex ID: W4409604945
FWCI:
Cites: 4
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Related to: 10