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

Cecilia Thairi; Rebecca Artioli; Marianna Paulis; Camilla Galli; Simon Cotič; Alessia Paldino; Ilenia Marino; Gianfranco Sinagra; Chiara Collesi; Matteo Dal Ferro; Elisa Di Pasquale

doi:10.1016/j.scr.2025.103719

Stem Cell Research (Aug 2025)

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

Cecilia Thairi,
Rebecca Artioli,
Marianna Paulis,
Camilla Galli,
Simon Cotič,
Alessia Paldino,
Ilenia Marino,
Gianfranco Sinagra,
Chiara Collesi,
Matteo Dal Ferro,
Elisa Di Pasquale

Affiliations

Cecilia Thairi: IRCCS Humanitas Research Hospital, Rozzano (Milan), Italy
Rebecca Artioli: Department of Life Sciences, University of Trieste, Trieste, Italy; International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
Marianna Paulis: IRCCS Humanitas Research Hospital, Rozzano (Milan), Italy; Institute for Genetic and Biomedical Research, UOS of Milan, National Research Council of Italy, Milan, Italy
Camilla Galli: IRCCS Humanitas Research Hospital, Rozzano (Milan), Italy; Institute for Genetic and Biomedical Research, UOS of Milan, National Research Council of Italy, Milan, Italy
Simon Cotič: Department of Life Sciences, University of Trieste, Trieste, Italy; International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
Alessia Paldino: Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), Trieste, Italy, member of European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Ilenia Marino: Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), Trieste, Italy, member of European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Gianfranco Sinagra: Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy; Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), Trieste, Italy, member of European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Chiara Collesi: Department of Life Sciences, University of Trieste, Trieste, Italy; International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
Matteo Dal Ferro: Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), Trieste, Italy, member of European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Elisa Di Pasquale: IRCCS Humanitas Research Hospital, Rozzano (Milan), Italy; Institute for Genetic and Biomedical Research, UOS of Milan, National Research Council of Italy, Milan, Italy; Corresponding author at: Cardiovascular Stem Cell Biology laboratory, IRCCS Humanitas Research Hospital, Rozzano (Milan), Italy.

DOI: https://doi.org/10.1016/j.scr.2025.103719
Journal volume & issue: Vol. 86
p. 103719

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.sciencedirect.com/journal/stem-cell-research

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