Induced pluripotent stem cells derived from an autosomal dominant lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in leucine-rich glioma inactivated 1 (LGI1)
| Autor: | Ghee Wan Tan, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Kayoko Tsukita, Ran Shibukawa, Misato Funayama, Riki Matsumoto, Akio Ikeda, Ryosuke Takahashi, Haruhisa Inoue |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Stem Cell Research, Vol 24, Iss C, Pp 12-15 (2017) |
| Druh dokumentu: | article |
| ISSN: | 1873-5061 1876-7753 |
| DOI: | 10.1016/j.scr.2017.07.030 |
| Popis: | Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited epileptic syndrome, and it is associated with mutations of leucine-rich glioma inactivated 1 (LGI1) gene. The underlying mechanisms of ADLTE are still unknown, as human neurons are difficult to obtain as a research tool. Human induced pluripotent stem cells (iPSCs) allow the generation of patient-derived neuronal cells in a dish, and can be a promising tool to model ADLTE. Here, we report the establishment of human iPSCs from an ADLTE patient carrying LGI1 mutation (c.1418C>T, p.Ser473Leu). |
| Databáze: | Directory of Open Access Journals |
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