Generation of SCN1B knock out induced pluripotent stem cell (iPSC) line (refractory epilepsy syndrome and Brugada syndrome related cell line)
Summary
The SCN1B gene, encoding the voltage-gated Na+ channel beta subunit Nav1.1, was founded as the most clinically relevant epilepsy and Brugadasyndrome gene. Variants in SCN1B resulted in genetic epilepsy with febrile seizures plus, severe Dravet Syndrome (DS), Brugadasyndrome, Atrial Arrhythmias, and Long QT-Syndrome. Here, we generated induced pluripotent stem cells (iPSC) from a normal individual by electroporation of peripheral blood mononuclear cells (PBMC), and further generated a SCN1B-knockout human iPSC line via CRISPR/Cas9 gene editing. The resulting iPSCs had normal karyotype, free of genomically integrated epitomal plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Shan W, An G, Ren Q, Wang Q |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Oct;56:102545 |
| PubMed | 34583279 |
| DOI | 10.1016/j.scr.2021.102545 |