Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation
Summary
Mutations in the KCNA2 gene, coding for the voltage-gated K+ channel Kv1.2, can cause developmental and epileptic encephalopathies. Kv1.2 channels play an important role in the repolarization phase of an action potential in nerve cells. Here, we reprogrammed human skin fibroblasts from a 13-year-old male patient with developmental and epileptic encephalopathy carrying a point mutation (c.982T>G, p.Leu328Val) in KCNA2 to human induced pluripotent stem cells (iPSCs) (HIHDNEi001-A). The cells maintained a normal karyotype and their pluripotency state was verified by the expression and staining of several pluripotency markers and capability to differentiate into all three germ layers. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Schwarz N, Uysal B, Rosa F, Löffler H, Mau-Holzmann UA, Liebau S, Lerche H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Dec;33:6-9 |
| PubMed | 30292882 |
| DOI | 10.1016/j.scr.2018.08.019 |