Zhao Huifang, He Lang, Huang Hualin, Li Shuai, Cheng Na, Tang Feng, Han Xiaobo, Lin Zuoxian, Huang Rongqi, Zhou Peng, Deng Sihao, Huang Jufang, Li Zhiyuan
School of Life Sciences, University of Science and Technology of China, Hefei, China; CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China; Guangzhou Regenerative Medicine and Health Guangdong Laboratory, 510005 Guangzhou, China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Stem Cell Res. 2020 Oct;48:102003. doi: 10.1016/j.scr.2020.102003. Epub 2020 Sep 17.
Dravet syndrome is an epileptic encephalopathy largely due to haploinsufficiency of the voltage-gated sodium channel Nav1.1 that is expressed primarily in GABAergic neurons. In order to distinguish the different subtypes, we used gene editing to introduce tdTomato gene into the genome of iPSCs to label the GABAergic neurons in the differentiated neuronal networks. The gene-edited cell line demonstrates normal karyotype, expresses the main pluripotency markers, and shows the presence of differentiation into the three embryonic germ layers in teratomas.
