Generation of three myotonic dystrophy type 1 patient iPSC lines (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from lymphoblastoid cell lines for disease modelling and therapeutic research.

Myotonic dystrophy type 1 (DM1) is the most prevalent adult-onset muscular dystrophy affecting 1 in 8,000 individuals. It is characterized by multisystemic symptoms, primarily myopathy. The root cause of DM1 is a heterozygous CTG triplet expansion beyond the normal size threshold in the non-coding region of the DM1 protein kinase gene (DMPK). In our study, we generated and characterized three distinct DM1 induced pluripotent stem cell (iPSC) lines with CTG repeat expansions ranging from 900 to 2000 in the DMPK gene. These iPSC lines maintained normal karyotypes, exhibited distinctive colony morphology, robustly expressed pluripotency markers, differentiated into the three primary germ layers, and lacked residual viral vectors.