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.
Authors
- Sílvia Albert (ORCID: https://orcid.org/0000-0002-6921-0351)
- Lisa Rahm (ORCID: https://orcid.org/0000-0003-1420-9027)
- Renée H. L. Raaijmakers
- Thomas D. Hoekman (ORCID: https://orcid.org/0009-0009-8916-3781)
- Hans van Bokhoven
- Derick G. Wansink
Institutions
- Radboud University Nijmegen (NL)
- Radboud University Medical Center (NL)
- Radboud Institute for Molecular Life Sciences (NL)
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