An iPSC line (FINi102-A) carrying a heterozygous R950Q variant in KCNT1 from a boy with early-onset epilepsy
Summary
The KCNT1 gene, affected in early-onset epilepsies, encodes a T-type sodium-activated potassium channel, KNa1.1, involved in membrane post-firing re-hyperpolarisation in various neuronal cell types. Fibroblasts from a boy with early-onset epilepsy carrying a heterozygous missense (R950Q) KCNT1 variant were reprogrammed using Sendai virus. This iPSC line displayed normal hiPSC morphology, expression of pluripotency markers, ability to differentiate into all three embryonic germ layers, and no high-density SNP array-detectable aneuploidies. This line can be used for modelling of, and the development of precision therapies for, debilitating early-onset epilepsies and other conditions caused by the variants in KCNT1. Copyright © 2025. Published by Elsevier B.V.
| Authors | Ovchinnikov DA, Jong S, Mullen S, West J, Maljevic S, Petrou S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Sep 3;88:103826 |
| PubMed | 40912205 |
| DOI | 10.1016/j.scr.2025.103826 |