Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control (CBRCULi006-A).

Publication Type:

Journal Article

Authors:

Mohamed Chahine; Jauvin, Dominic; Pierre, Marion; Puymirat, Jack; Boutjdir, Mohamed

Source:

Stem Cell Res, Volume 71, p.103148 (2023)

Keywords:

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

Abstract:

<p>Myotonic dystrophy type 1 (DM1) is a genetic neuromuscular disorder that affects many organs, including the heart. DM1 is caused by a heterozygous CTG triplet expansion exceeding the normal size threshold in the non-coding region of the DM1 protein kinase gene (DMPK). We generated and characterized a DM1 iPSC line carrying a 700 CTG repeat expansion as well as a control iPSC line from a healthy individual. The two iPSC lines expressed several pluripotency markers, had the capacity to differentiate into the three primary germ layers, had no residual viral vectors, had normal karyotypes, and had a typical colony morphology.</p>