Disease Modeling and Gene Correction of LGMDR21- iPSCs Elucidates the Role of POGLUT1 in Skeletal Muscle Maintenance, Regeneration, and Satellite Cell Niche

Using patient iPSCs, their corrected isotypes and control iPSCs, gene expression profiling indicated dysregulation of protein O-glucosyltransferase 1 (POGLUT1), NOTCH, muscle development, ECM, cell adhesion and migration, as involved pathways.