从一名携带富含亮氨酸胶质瘤失活蛋白1（LGI1）中S473L突变的常染色体显性外侧颞叶癫痫（ADLTE）患者身上获取的诱导多能干细胞。
Induced pluripotent stem cells derived from an autosomal dominant lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in leucine-rich glioma inactivated 1 (LGI1).
作者信息
Tan Ghee Wan, Kondo Takayuki, Murakami Nagahisa, Imamura Keiko, Enami Takako, Tsukita Kayoko, Shibukawa Ran, Funayama Misato, Matsumoto Riki, Ikeda Akio, Takahashi Ryosuke, Inoue Haruhisa
机构信息
Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
出版信息
Stem Cell Res. 2017 Oct;24:12-15. doi: 10.1016/j.scr.2017.07.030. Epub 2017 Jul 29.
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).
常染色体显性遗传性外侧颞叶癫痫（ADLTE）是一种遗传性癫痫综合征，与富含亮氨酸的胶质瘤失活1（LGI1）基因突变有关。由于难以获取人类神经元作为研究工具，ADLTE的潜在机制仍不清楚。人类诱导多能干细胞（iPSC）能够在培养皿中生成患者来源的神经元细胞，可能是用于建立ADLTE模型的理想工具。在此，我们报告了从一名携带LGI1突变（c.1418C>T，p.Ser473Leu）的ADLTE患者身上成功建立人类iPSC的过程。
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