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Title: 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.
Austin Authors: Ovchinnikov, D A;Jong, S;Cuddy, C;Scheffer, Ingrid E ;Maljevic, S;Petrou, S
Affiliation: The Florey Institute of Neuroscience and Mental Health
Medicine (University of Melbourne)
Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne, VIC, Australia
Praxis Precision Medicines, Cambridge, MA, USA
Issue Date: 8-Aug-2023
Date: 2023
Publication information: Stem Cell Research 2023-08-08; 71
Abstract: 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.
DOI: 10.1016/j.scr.2023.103179
Journal: Stem Cell Research
Start page: 103179
PubMed URL: 37597357
ISSN: 1876-7753
Type: Journal Article
Appears in Collections:Journal articles

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