Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation

Nagahisa Murakami; Taizo Ishikawa; Takayuki Kondo; Keiko Imamura; Kayoko Tsukita; Takako Enami; Misato Funayama; Ran Shibukawa; Shinichi Matsumoto; Yuishin Izumi; Etsuro Ohta; Fumiya Obata; Ryuji Kaji; Haruhisa Inoue

doi:10.1016/j.scr.2017.07.029

Stem Cell Research (Oct 2017)

Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation

Nagahisa Murakami,
Taizo Ishikawa,
Takayuki Kondo,
Keiko Imamura,
Kayoko Tsukita,
Takako Enami,
Misato Funayama,
Ran Shibukawa,
Shinichi Matsumoto,
Yuishin Izumi,
Etsuro Ohta,
Fumiya Obata,
Ryuji Kaji,
Haruhisa Inoue

Affiliations

Nagahisa Murakami: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Taizo Ishikawa: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Takayuki Kondo: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Keiko Imamura: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Kayoko Tsukita: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Takako Enami: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Misato Funayama: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Ran Shibukawa: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Shinichi Matsumoto: Department of Neurology, Shinko Hospital, Kobe, Japan
Yuishin Izumi: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan
Etsuro Ohta: Division of Clinical Immunology, Graduate School of Medical Sciences, Kitasato University, Kanagawa, Japan
Fumiya Obata: Division of Clinical Immunology, Graduate School of Medical Sciences, Kitasato University, Kanagawa, Japan
Ryuji Kaji: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan
Haruhisa Inoue: Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan

DOI: https://doi.org/10.1016/j.scr.2017.07.029
Journal volume & issue: Vol. 24, no. C
pp. 36 – 39

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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