Generation of iPSC lines (ICHi001-A, ICHi002-A, ICHi003-A, ICHi004-A) from four patients carrying Titin truncating variants associated with dilated cardiomyopathy
2025
Cecilia Thairi | Rebecca Artioli | Marianna Paulis | Camilla Galli | Simon Cotič | Alessia Paldino | Ilenia Marino | Gianfranco Sinagra | Chiara Collesi | Matteo Dal Ferro | Elisa Di Pasquale
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.
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