Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5522692 | Stem Cell Research | 2017 | 8 Pages |
Abstract
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.1418CÂ >Â T, p.Ser473Leu).
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Authors
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,