RNA signatures of DMD urinary stem cells identify antisense effect and causative mutations in undiagnosed patients

We have characterized the native urine derived stem cells (USCs) in order to understand if they could be an authologous, non-invasive, and cost effective in vitro model for research and diagnostic application in Duchenne muscular dystrophy disease We analyzed the gene expression levels of i) native USCs, derived from a pool of 3 healthy donors (C-n) and from the DMD patient IG (IG-n), ii) MyoD-transformed USCs from controls (C-m) and from the DMD patient IG (IG-m), and iii) MyoD-transformed USCs from the DMD patient IG transfected with AON to skip the exon 44 and reframe the DMD transcript (IG-m 44)