An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Na(v)1.2
Summary
Many developmental and epileptic encephalopathies (DEEs) result from variants in cation channel genes. Using mRNA transfection, we generated and characterised an induced pluripotent stem cell (iPSC) line from the fibroblasts of a male late-onset DEE patient carrying a heterozygous missense variant (E1211K) in Nav1.2(SCN2A) protein. The iPSC line displays features characteristic of the human iPSCs, colony morphology and expression of pluripotency-associated marker genes, ability to produce derivatives of all three embryonic germ layers, and normal karyotype without SNP array-detectable abnormalities. We anticipate that this iPSC line will aid in the modelling and development of precision therapies for this debilitating condition. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ovchinnikov DA, Jong S, Cuddy C, Dalby K, Devinsky O, Mullen S, Maljevic S, Petrou S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103367 |
| PubMed | 38479087 |
| DOI | 10.1016/j.scr.2024.103367 |