Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG repeat lengths

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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Publication Details

Journal
Stem Cell Research
Published
2026-05-01
DOI
https://doi.org/10.1016/j.scr.2026.104013
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG repeat lengths

Sílvia Albert, Lisa Rahm, Renée H. L. Raaijmakers, Thomas D. Hoekman et al.
Stem Cell Research
Genetic Neurodegenerative Diseases
article

Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG repeat lengths

Sílvia Albert, Lisa Rahm, Renée H. L. Raaijmakers, Thomas D. Hoekman, Hans van Bokhoven, Derick G. Wansink
article en

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.

Stem Cell Research
Radboud University Nijmegen (NL), Radboud University Medical Center (NL), Radboud Institute for Molecular Life Sciences (NL)
Openalex Percentile: Top 8%
Genetic Neurodegenerative Diseases
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