Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/33560
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
Paediatrics
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.
URI: https://ahro.austin.org.au/austinjspui/handle/1/33560
DOI: 10.1016/j.scr.2023.103179
ORCID: 
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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