4 years ago

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

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

Publisher URL: http://doi.org/10.1016/j.scr.2017.07.029

DOI: 10.1016/j.scr.2017.07.029

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