Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation
| Autor: | 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 |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Stem Cell Research, Vol 24, Iss C, Pp 36-39 (2017) |
| Druh dokumentu: | article |
| ISSN: | 1873-5061 1876-7753 |
| DOI: | 10.1016/j.scr.2017.07.029 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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