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◆ Stem Cell Research2026-05-10· Biology

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

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

原始摘要(英文原文)· Original 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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Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG repeat lengths — 科研速览 Science Skim