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Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation.
Murakami, Nagahisa; Ishikawa, Taizo; Kondo, Takayuki; Imamura, Keiko; Tsukita, Kayoko; Enami, Takako; Funayama, Misato; Shibukawa, Ran; Matsumoto, Shinichi; Izumi, Yuishin; Ohta, Etsuro; Obata, Fumiya; Kaji, Ryuji; Inoue, Haruhisa.
Afiliación
  • Murakami N; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Ishikawa T; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Sumitomo Dainippon Pharma, Osaka, Japan.
  • Kondo T; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Imamura K; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Tsukita K; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Enami T; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Funayama M; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Shibukawa R; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Matsumoto S; Department of Neurology, Shinko Hospital, Kobe, Japan.
  • Izumi Y; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Ohta E; Division of Clinical Immunology, Graduate School of Medical Sciences, Kitasato University, Kanagawa, Japan.
  • Obata F; Division of Clinical Immunology, Graduate School of Medical Sciences, Kitasato University, Kanagawa, Japan.
  • Kaji R; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Inoue H; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Drug-Discovery Cellular Basis Development Team, RIKEN BioResource Center, Kyoto, Japan. Electronic address: haruhisa@cira.kyoto-u.ac.jp.
Stem Cell Res ; 24: 36-39, 2017 10.
Article en En | MEDLINE | ID: mdl-29034893
Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 20-year-old dystonia patient with a GCH1 mutation (DYT5). Episomal vectors were used to introduce reprogramming factors (OCT3/4, SOX2, KLF4, L-MYC, LIN28, and p53 carboxy-terminal dominant-negative fragment) to the PBMCs. The generated iPSCs expressed pluripotency markers, and were capable of differentiating into derivates of all three germ layers in vitro. The iPSC line also showed a normal karyotype and preserved the GCH1 mutation. This cellular model can provide opportunities to perform pathophysiological studies for aberrant dopamine metabolism-related disorders.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas / Vectores Genéticos Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2017 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas / Vectores Genéticos Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2017 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido