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

Abstract

Severe mycological epilepsy of infancy is a catastrophic disease with preferential dysfunction of interneurons, frequent episode rate, 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 epilepsy-causing mutation A5768G into the endogenous locus of SCN1A gene. The gene editing induced pluripotent stem cell line and normal iPSC were obtained from the same donor to eliminate significantly the genetic background noise.