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 Na1.2.

Journal: Stem cell research

Volume: 76

Issue: 

Year of Publication: 2024

Affiliated Institutions:  The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC, Australia. Praxis Precision Medicines, Cambridge, MA, USA. Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA. The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC, Australia; Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne, VIC, Australia. The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC, Australia. Electronic address: snezana.maljevic@florey.edu.au. The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne VIC, Australia; Praxis Precision Medicines, Cambridge, MA, USA. Electronic address: steven.petrou@florey.edu.au.

Abstract summary 

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 Na1.2(SCN2A) protein. The iPSC line displays features characteristic of the human iPSCs, colony morphology and expression of pluripotency-associated marker genes, ability to produce derivatives of all three embryonic germ layers, and normal karyotype without SNP array-detectable abnormalities. We anticipate that this iPSC line will aid in the modelling and development of precision therapies for this debilitating condition.

Authors & Co-authors:  Ovchinnikov Jong Cuddy Dalby Devinsky Mullen Maljevic Petrou

Study Outcome 

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Statistics
Citations : 
Authors :  8
Identifiers
Doi : 10.1016/j.scr.2024.103367
SSN : 1876-7753
Study Population
Male
Mesh Terms
Humans
Other Terms
Study Design
Study Approach
Country of Study
Mali
Publication Country
England