Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51–53 of the dystrophin gene (CCMi003-A)

Publication date: Available online 20 August 2019Source: Stem Cell ResearchAuthor(s): Rovina Davide, Castiglioni Elisa, Farini Andrea, Bellichi Marzia, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Santoro Rosaria, Torrente Yvan, Pompilio Giulio, Gowran AoifeAbstractDuchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene. Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogrammed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprogramming factors: OCT4, SOX2, LIN28, KLF4, and L-MYC. The obtained iPSC line showed iPSC morphology, expression of pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal.
Source: Stem Cell Research - Category: Stem Cells Source Type: research