title: Modeling induced pluripotent stem cells from fibroblasts of Duchenne muscular dystrophy patients.
abstract: The generation of disease-specific induced pluripotent stem cell (iPS cell) lines from patients with incurable diseases is a promising approach for studying disease mechanisms and for drug screening. Such innovation enables us to obtain autologous cell sources for regenerative medicine. Herein, we report the generation and characterization of iPS cells from the fibroblasts of patients with a family history of Duchenne muscular dystrophy (DMD); these fibroblasts were obtained from patients at 22 gestational weeks of age and exhibit exon duplication from exons 16 to 42. The DMD-iPS cells were generated by the ectopic expression of four transcription factors: OCT4, SOX2, KLF4, and c-MYC; the DMD-iPS cells expressed several pluripotency markers and could be differentiated into various somatic cell types both in vitro and in vivo. Furthermore, DMD-iPSCs showed the differentiation potential to neuronal lineage. Thus, DMD-iPS cells are expected to serve as an in vitro disease model system, which will lay a foundation for the production of autologous cell therapies that avoid immune rejection and enable the correction of gene defects prior to tissue reconstitution.
authors.affiliation: The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Yumei
authors.initials: Y
authors.lastname: Luo
authors.forename: Yong
authors.initials: Y
authors.lastname: Fan
authors.forename: Xinjie
authors.initials: X
authors.lastname: Chen
authors.forename: Lei
authors.initials: L
authors.lastname: Yue
authors.forename: Bolan
authors.initials: B
authors.lastname: Yu
authors.forename: Qing
authors.initials: Q
authors.lastname: Li
authors.forename: Yaoyong
authors.initials: Y
authors.lastname: Chen
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Sun
mesh_terms: D000469:Alkaline Phosphatase / Q000378:metabolism; D002454:Cell Differentiation / Q000235:genetics / Q000502:physiology; D002478:Cells, Cultured; D005333:Fetus; D005347:Fibroblasts / Q000187:drug effects / Q000502:physiology*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000502:physiology*; D000090062:Kruppel-Like Factor 4; D051741:Kruppel-Like Transcription Factors / Q000235:genetics / Q000378:metabolism; D008954:Models, Biological; D020388:Muscular Dystrophy, Duchenne / Q000473:pathology*; D020598:Proto-Oncogene Proteins c-myb / Q000235:genetics / Q000378:metabolism; D055748:SOXB1 Transcription Factors / Q000235:genetics / Q000378:metabolism; D013724:Teratoma / Q000209:etiology; D014162:Transfection
chemical_list: C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; D051741:Kruppel-Like Transcription Factors; D020598:Proto-Oncogene Proteins c-myb; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D000469:Alkaline Phosphatase