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)

Stem Cell Research

3 September Sep 2019 19 days ago
  • Rovina D, Castiglioni E, Santoro R, Pompilio G, Gowran A

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 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.

Reference

Davide R, Elisa C, Andrea F, Marzia B, Gervasini C, Paganini S, Di Segni M, Rosaria S, Yvan T, Giulio P, Aoife G. 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). Stem Cell Res 2019 Aug 20;40:101544. doi: 10.1016/j.scr.2019.101544.

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