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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 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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