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


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. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Chahine M, Jauvin D, Pierre M, Puymirat J, Boutjdir M
Journal Stem cell research
Publication Date 2023 Sep;71:103148
PubMed 37352653
DOI 10.1016/j.scr.2023.103148

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