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A heterozygous SCN1A (c.A5768G/+) mutant human induced pluripotent stem cell line (USTCi002-A) generated using TALEN-mediated precise gene editing.

Stem cell research - 1 Dec 2020

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

Abstract excerpt

Severe mycological epilepsy of infancy is a catastrophic disease with preferential dysfunction of interneurons, frequentepisoderate, cognitive and sudden death. The disease is mainly caused by heterozygous loss-of-function mutation of SCN1A gene encoding α subunit of the sodium channel Nav1.1. To generate mutations in normal iPSC, Transcription activator-like effector nucleases was used to introduce the...

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PMID: 33189042
DOI: 10.1016/j.scr.2020.102058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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