Journal
STEM CELL RESEARCH
Volume 64, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2022.102889
Keywords
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Funding
- Fondazione IEO-CCM (Pompilio, Rovina)
- Italian Ministry of Health (Pompilio, Torrente)
- Italian Ministry of Health-Ricerca Corrente MPP5A: Advanced cell models of cardiomyopathies (Pompilio)
- Fondazione Umberto Veronesi (Gowran)
- Telethon-Unione Italiana Lotta alla Distrofia Muscolare Clinical [2019 GUP19012]
- Fondazione Telethon (Torrente)
- European Research Area Network on Cardiovascular Diseases [JTC2018-046 DENIM]
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This passage discusses the generation of iPSCs from dermal fibroblasts through reprogramming and the study of gene mutations related to DMD. The established iPSC line was found to have multilineage differentiation potential and normal cell morphology.
Duchenne muscular dystrophy (DMD) is an X-linked syndrome that affects skeletal and cardiac muscle and is caused by mutation of the dystrophin gene. Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts by electroporation with episomal vectors containing the reprogramming factors (OCT4, SOX2, LIN28, KLF4, and L-MYC). The donor carried an out-of-frame deletion of exons 45-50 of the dystrophin gene. The established iPSC line exhibited normal morphology, expressed pluripotency markers, had normal karyotype and possessed trilineage differentiation potential.
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