Generation of an induced pluripotent stem cell line (SSMCi002-A) from a pediatric dilated cardiomyopathy patient carrying heterozygous mutation in the TTN gene
Summary
Dilated cardiomyopathy (DCM), a leading cause of sudden cardiac death and heart failure, represents one of the most common cardiomyopathies in pediatric patients. In this study, we established a pluripotent stem cell (iPSC) line derived from a pediatric DCM patient harboring a heterozygous missense mutation in the TTN (titin) gene and homozygous nonsense mutations in both the PRR32 and RBMXL3 genes. Reprogramming was performed using a non-integrating episomal vector system. The generated iPSC line exhibited characteristic pluripotent morphology, maintained a normal male karyotype, expressed key pluripotency markers, and demonstrated robust trilineage differentiation potentialin vivo. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Zhang N, Wang Y, Hou J, Zhang Y, Shan Y, Hu Y, Wang C, Long Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Feb;90:103893 |
| PubMed | 41496282 |
| DOI | 10.1016/j.scr.2025.103893 |