Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell lines.

Publication Type:

Journal Article


Stem Cell Res, Volume 67, p.103037 (2023)


Adult, Cell Line, Humans, Induced Pluripotent Stem Cells, Muscle, Skeletal, Myotonic Dystrophy, Myotonin-Protein Kinase, Trinucleotide Repeat Expansion


<p>Myotonic dystrophy Type 1 (DM1) is a severe inherited neuromuscular disease and is the most prevalent form of muscular dystrophy in adults. DM1 involves not only the striated muscles including skeletal, and cardiac but also other organs such as the eye, brain and gonads. We have generated and characterized 4 adult heterozygous DM1 iPSC lines carrying between 1300 and 1600 CTG repeat expansion in the DM1 protein kinase gene, and a control from an apparently healthy individual. They all show strong pluripotency markers, differentiation capacity, the absence of residual viral vectors as well as normal karyotypes and colony morphologies.</p>

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