title: Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease.
abstract: Cellular models of muscle disease are taking on increasing importance with the large number of genes and mutations implicated in causing myopathies and the concomitant need to test personalized therapies. Developing cell models relies on having an easily obtained source of cells, and if the cells are not derived from muscle itself, a robust reprogramming process is needed. Fibroblasts are a human cell source that works well for the generation of induced pluripotent stem cells, which can then be differentiated into cardiomyocyte lineages, and with less efficiency, skeletal muscle-like lineages. Alternatively, direct reprogramming with the transcription factor MyoD has been used to generate myotubes from cultured human fibroblasts. Although useful, fibroblasts require a skin biopsy to obtain and this can limit their access, especially from pediatric populations.
  
  
  
  We now demonstrate that direct reprogramming of urine-derived cells is a highly efficient and reproducible process that can be used to establish human myogenic cells. We show that this method can be applied to urine cells derived from normal individuals as well as those with muscle diseases. Furthermore, we show that urine-derived cells can be edited using CRISPR/Cas9 technology.
  
  
  
  With progress in understanding the molecular etiology of human muscle diseases, having a readily available, noninvasive source of cells from which to generate muscle-like cells is highly useful.
authors.affiliation: Molecular Pathogenesis and Molecular Medicine, The University of Chicago, Chicago, USA.
authors.forename: Ellis Y
authors.initials: EY
authors.lastname: Kim
authors.affiliation: Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, 303 E. Superior St., Chicago, IL 60611 USA.
authors.forename: Patrick
authors.initials: P
authors.lastname: Page
authors.affiliation: Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, 303 E. Superior St., Chicago, IL 60611 USA.
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Dellefave-Castillo
authors.affiliation: Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, 303 E. Superior St., Chicago, IL 60611 USA.
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: McNally
authors.affiliation: Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, 303 E. Superior St., Chicago, IL 60611 USA.
authors.forename: Eugene J
authors.initials: EJ
authors.lastname: Wyatt
mesh_terms: D018929:Cell Culture Techniques; D002454:Cell Differentiation; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D002999:Clone Cells; D064112:Clustered Regularly Interspaced Short Palindromic Repeats; D000072669:Gene Editing; D006801:Humans; D024510:Muscle Development; D009135:Muscular Diseases / Q000378:metabolism / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000378:metabolism / Q000503:physiopathology; D017570:MyoD Protein / Q000378:metabolism*; D014556:Urine / Q000166:cytology*
chemical_list: D017570:MyoD Protein
keywords: CRISPR; Muscular dystrophy; MyoD; Myotubes; Reprogramming; Urine cells