Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene

被引：2

作者：

Ovchinnikov, D. A. ^{[1
]}

Jong, S. ^{[1
]}

Cuddy, C. ^{[1
]}

Scheffer, I. E. ^{[1
,2
,3
]}

Maljevic, S. ^{[1
]}

Petrou, S. ^{[1
,4
]}

机构：

[1] Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, VIC 3010, Australia

[2] Univ Melbourne, Dept Med & Paediat, Austin Hlth, Melbourne, Vic, Australia

[3] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[4] Praxis Precis Med, Cambridge, MA 02110 USA

来源：

STEM CELL RESEARCH | 2023年 / 71卷

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/j.scr.2023.103179

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

A range of epilepsies, including the most severe group of developmental and epileptic encephalopathies (DEEs), are caused by gain-of-function variants in voltage -gated channels. Here we report the generation and characterisation of an iPSC cell line from the fibroblasts of a girl with early infantile DEE carrying heterozygous missense gain-of-function mutation (R1882Q) in Nav1.2(SCN2A) protein, using transient transfection with a single mRNA molecule. The established iPSC line displays typical human primed pluripotent stem cell characteristics: typical colony morphology and robust expression of pluripotency-associated marker genes, ability to give rise to derivatives of all three embryonic germ layers, and normal karyotype without any SNP array-detectable copy number variations. We anticipate that this iPSC line will be useful for the development of neuronal hyperactivity-caused human stem cell-based DEE models, advancing both understanding and potential therapy development for this debilitating condition.

引用

页数：5