Work

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

Year: 2026

Type: article

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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.104013

Authors: Thomas D. Hoekman, Lisa Rahm, Silvia Albert, Derick G. Wansink, Hans van Bokhoven, Renée H.L. Raaijmakers

Institutions: Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360