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)
Summary
Duchenne'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 reprogramed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprograming 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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Rovina D, Castiglioni E, Farini A, Bellichi M, Gervasini C, Paganini S, Di Segni M, Santoro R, Torrente Y, Pompilio G, Gowran A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Oct;40:101544 |
| PubMed | 31465894 |
| DOI | 10.1016/j.scr.2019.101544 |