Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C)
Summary
KCNQ2 encodes the potassium-gated voltage channel Kv7.2, responsible for the M-current, which contributes to neuronal resting membrane potential. Pathogenic variants in KCNQ2 cause early onset epilepsies, developmental and epileptic encephalopathies. In this study, we generated three iPSC lines from dermal fibroblasts of a 5 year-old female patient with the KCNQ2 c.638C > T (p.Arg213Gln) pathogenic heterozygous variant and three iPSC lines from a healthy sibling control. These iPSC lines were validated by confirming the targeted mutation, SNP karyotyping, STR analysis, pluripotent gene expression, differentiation capacity into three germ layers, and were free of transgene integration and Mycoplasma. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Stewart R, Gadoud C, Krawczyk J, McInerney V, O'Brien T, Shen S, Allen NM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Jun;69:103093 |
| PubMed | 37071954 |
| DOI | 10.1016/j.scr.2023.103093 |