Generation of an induced pluripotent stem cell line (SSMCi002-A) from a pediatric dilated cardiomyopathy patient carrying heterozygous mutation in the TTN gene
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.
Authors
- Jian Hou (ORCID: https://orcid.org/0000-0003-1590-4013)
- Yuling Zhang (ORCID: https://orcid.org/0000-0002-8497-0965)
- Yan Long (ORCID: https://orcid.org/0000-0002-0755-3199)
- Cheng Wang (ORCID: https://orcid.org/0000-0002-7120-0654)
- Yuanxi Wang (ORCID: https://orcid.org/0000-0002-0659-1134)
- Yanli Hu (ORCID: https://orcid.org/0000-0002-9811-5572)
- Ning Zhang (ORCID: https://orcid.org/0000-0001-7182-0100)
- Yongli Shan
Institutions
- Shihezi University (CN)
- Sun Yat-sen University (CN)
- Chinese Academy of Sciences (CN)
- Guangzhou Institutes of Biomedicine and Health (CN)
- Longgang Central Hospital (CN)
- Sun Yat-sen Memorial Hospital (CN)
- First Affiliated Hospital of Guangzhou Medical University (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
- Fourth People's Hospital of Shenzhen (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-12-19
- DOI
- https://doi.org/10.1016/j.scr.2025.103893
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00