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Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability

13 Feb 2017

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multi-system disease caused by expanded CTG repeats in dystrophia myotonica protein kinase (DMPK). The expanded CTG repeats are unstable and can increase the length of the gene with age, which worsens the symptoms. In order to establish a human stem cell system suitable for the investigation of repeat instability, DM1 patient-derived iPSCs were generated...

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PMID: 28211918
DOI: 10.1038/srep42522

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