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
Dominic Jauvin, Marion Pierre, Mohamed Boutjdir, Jack Puymirat, Mohamed Chahine
Abstract
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.
Topics & Concepts
Myotonic dystrophyBiologyMuscular dystrophyMyotoniaKaryotypeInduced pluripotent stem cellGeneNeuromuscular diseaseMyocyteGeneticsMolecular biologyCell biologyDiseaseInternal medicineChromosomeEmbryonic stem cellMedicineGenetic Neurodegenerative DiseasesDNA Repair MechanismsCRISPR and Genetic Engineering