Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene

Stem Cell Res. 2018 Apr;28:100-104. doi: 10.1016/j.scr.2018.01.036. Epub 2018 Feb 2.

Abstract

Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel Nav1.1. As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A. Here, we describe developing a genome-edited control cell line from this DS iPSC line by substituting the point mutation with the wild-type residue. This artificial control iPSC line will be a powerful tool for research into the pathology of DS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line
  • Epilepsies, Myoclonic / pathology*
  • Female
  • Gene Editing*
  • Humans
  • Induced Pluripotent Stem Cells
  • Microsatellite Repeats / genetics
  • Mycoplasma / isolation & purification
  • NAV1.1 Voltage-Gated Sodium Channel / genetics*
  • Transcription Activator-Like Effector Nucleases / metabolism*

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • SCN1A protein, human
  • Transcription Activator-Like Effector Nucleases