Article
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 Nav1.2.
Stem cell research - 1 Apr 2024
Ovchinnikov Dmitry A, Jong Sharon, Cuddy Claire, Dalby Kelly, Devinsky Orrin, Mullen Saul, Maljevic Snezana, Petrou Steve
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.