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Stem Cell Res. 2019 Aug 20;40:101544. doi: 10.1016/j.scr.2019.101544. [Epub ahead of print]

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).

Author information

1
Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy.
2
Stem Cell Laboratory, Department of Pathophysiology and Transplantation, University of Milan, Unit of Neurology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, Milan, Italy.
3
Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
4
Laboratory of Medical Genetics, Fondazione IRCCS Ca' Grande, Ospedale Maggiore Policlinico, Milan, Italy.
5
Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy; Centro Cardiologico Monzino-IRCCS, Department of Cardiac Surgery, Centro Cardiologico Monzino IRCCS, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Italy.
6
Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy. Electronic address: agowran@ccfm.it.

Abstract

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.

PMID:
31465894
DOI:
10.1016/j.scr.2019.101544
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