Literature DB >> 32977294

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

Huifang Zhao1, Lang He2, Hualin Huang3, Shuai Li3, Na Cheng4, Feng Tang3, Xiaobo Han3, Zuoxian Lin5, Rongqi Huang3, Peng Zhou4, Sihao Deng4, Jufang Huang4, Zhiyuan Li6.   

Abstract

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.
Copyright © 2020. Published by Elsevier B.V.

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Year:  2020        PMID: 32977294     DOI: 10.1016/j.scr.2020.102003

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  1 in total

Review 1.  Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.

Authors:  Valery Zayat; Roza Szlendak; Dorota Hoffman-Zacharska
Journal:  Cells       Date:  2022-10-04       Impact factor: 7.666

  1 in total

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