Work

Generation of an induced pluripotent stem cell line (SSMCi002-A) from a pediatric dilated cardiomyopathy patient carrying heterozygous mutation in the TTN gene

Year: 2025

Type: article

Abstract: 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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103893