Stem Cell Research (Oct 2020)

Generation of a tdTomato-GAD67 reporter human epilepsia mutation induced pluripotent stem cell line, USTCi001-A-2, using CRISPR/Cas9 editing

  • Huifang Zhao,
  • Lang He,
  • Hualin Huang,
  • Shuai Li,
  • Na Cheng,
  • Feng Tang,
  • Xiaobo Han,
  • Zuoxian Lin,
  • Rongqi Huang,
  • Peng Zhou,
  • Sihao Deng,
  • Jufang Huang,
  • Zhiyuan Li

Journal volume & issue
Vol. 48
p. 102003

Abstract

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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.