Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation
Summary
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. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Murakami N, Ishikawa T, Kondo T, Imamura K, Tsukita K, Enami T, Funayama M, Shibukawa R, Matsumoto S, Izumi Y, Ohta E, Obata F, Kaji R, Inoue H |
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| Journal | Stem cell research |
| Publication Date | 2017 Oct;24:36-39 |
| PubMed | 29034893 |
| DOI | 10.1016/j.scr.2017.07.029 |