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Updated: May 16, 2026

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
Published on: September 14, 2019
Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG repeat lengths
Thomas D Hoekman1, Lisa Rahm2, Silvia Albert3
1Radboud University Medical Center, Radboud Institute for Medical Innovation, Department of Medical BioSciences, 6525 GA Nijmegen, the Netherlands.
Abstract:
An expanded CTG trinucleotide repeat in the Dystrophia Myotonica Protein Kinase (DMPK) gene underpins myotonic dystrophy type 1 (DM1), an autosomal dominant neuromuscular disorder that affects almost every organ system, especially the skeletal muscle, central nervous system and the heart. In this study, we describe the generation of induced pluripotent stem cell (iPSC) lines from patient-derived fibroblasts carrying varying expanded (CTG)n repeats in DMPK. These lines provide a valuable resource of investigating how CTG repeat length correlates with DM1-related cellular phenotypes in differentiated, disease-relevant cell types, including muscle progenitor cells and neurons.
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