Abstract
Myotonic dystrophy (DM1) is mainly caused by abnormal number of the CTG repeat sequence of the DMPK gene. DM1 clinically manifests mainly as progressive muscular atrophy and muscle weakness. Cataracts form in the eyes of some patients. We successfully induced skin fibroblasts from a DM1 patient with cataract and in turn induced pluripotent stem cells (iPSCs) using an unintegrated reprogramming approach. This cell line will provide a reliable cell model for further studies on the pathogenesis and potential therapeutic targets of DM1.
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