Generation of an induced pluripotent stem cell line (SSMCi001-A) from a dilated cardiomyopathy patient due to mutations in the TTN gene
Summary
Dilated cardiomyopathy (DCM) represents a major contributor to heart failure and serves as the primary indication for heart transplantation worldwide. In this study, we generated a human induced pluripotent stem cell (hiPSC) line from a DCM patient harboring triple heterozygous mutations in the titin (TTN) gene, employing non-integrating episomal vectors for reprogramming. The established cell line maintained a normal male karyotype (46, XY), expressed characteristic pluripotency markers, and exhibited robust trilineage differentiation potential in vitro. This disease-specific iPSC model provides a valuable platform for investigating the molecular mechanisms underlying TTN mutation-associated DCM pathogenesis and for developing targeted therapeutic strategies. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Li X, Wang Y, Hou J, Li W, Shan Y, Zhang N, Hu Y, Wang C, Long Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jun 30;87:103763 |
| PubMed | 40614688 |
| DOI | 10.1016/j.scr.2025.103763 |