Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)
Summary
De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel Kv1.2, which is vital in regulating neuronal membrane potential and repolarization. In this study, we generated three iPSC lines with non-integrating Sendai viral vectors from dermal fibroblasts of an 11-year old female patient harboring the KCNA2 c.869T>G (p.Leu290Arg) pathogenic variant. The iPSC lines were validated with standardized procedures including the targeted mutation, free of transgene integration, SNP karyotyping, pluripotent gene expression, and differentiation capacity into three embryonic germ layers. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Arbini A, Gilmore J, King MD, Gorman KM, Krawczyk J, McInerney V, O'Brien T, Shen S, Allen NM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jul;46:101853 |
| PubMed | 32540721 |
| DOI | 10.1016/j.scr.2020.101853 |