title: [Generation of induced pluripotent stem cells from amyotrophic lateral sclerosis patientcarrying SOD1-V14M mutation].
abstract: OBJECTIVE
  To generate familial ALS patient specific induced pluripotent stem (iPS) cell lines and motor neurons and provide a cell-based disease model for amyotrophic lateral sclerosis (ALS) in Han Chinese.
  
  
  METHODS
  iPS cells were derived from familial ALS patient by introducing 4 transcription factors OCT3/4, SOX2, KLF4 and c-MYC into fibroblast cells by retroviruses. Karyotypic analysis, immunofluorescence staining and quantitative reverse transcription-polymerase chain reaction (RT-PCR) were used to identify the pluripotency of these iPS cell lines. In addition, motor neurons were derived from these iPS cells by inhibiting SMAD pathway.
  
  
  RESULTS
  IPS cell lines were established from ALS patient carrying SOD1-V14M mutation. They had pluripotency and were similar to human ES cells. Furthermore, motor neurons were successfully induced from these iPS cells.
  
  
  CONCLUSIONS
  SOD1-V14M mutation does not affect the reprogramming of fibroblast cells and pluripotency of iPS cells, nor does it prevent differentiation of motor neurons. Furthermore, the above cell-based disease model can recapitulate key aspects of ALS pathogenesis so that it provides an indispensible resource for further elucidating ALS disease pathogenesis and screening appropriate drug candidates in Han Chinese.
authors.affiliation: Medical Research Center, Peking University Third Hospital, Beijing 100191, China.
authors.forename: Xinxiu
authors.initials: X
authors.lastname: Liu
authors.forename: Jiayu
authors.initials: J
authors.lastname: Chen
authors.forename: Xiaogang
authors.initials: X
authors.lastname: Li
authors.forename: Shaorong
authors.initials: S
authors.lastname: Gao
authors.affiliation: Email: dengmin1706@gmail.com.
authors.forename: Min
authors.initials: M
authors.lastname: Deng
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002454:Cell Differentiation; D002460:Cell Line; D005347:Fibroblasts; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology*; D000090062:Kruppel-Like Factor 4; D009046:Motor Neurons; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1