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Paper Details

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 Na<sub>v</sub>1.2 protein encoded by the SCN2A gene.
Stem Cell Res
1
2023
DEE, DEEs, FINi001-A, Na1, R1882Q, SCN2A, SCN2A gene, SCN2A gene., SNP, developmental and epileptic encephalopathies, developmental and epileptic encephalopathy, epilepsies, fibroblasts, girl, human, human primed pluripotent stem cell, iPSC cell line, iPSC line, neuronal hyperactivity, pluripotency-associated marker genes, single mRNA molecule, voltage-gated sodium channel Na1.2 protein
Author NameAffiliation
Dmitry A OvchinnikovThe Florey Institute for Neuroscience and Mental Health, University of Melbourne
Ingrid E SchefferThe Florey Institute for Neuroscience and Mental Health, University of Melbourne, The University of Melbourne, Austin Health and Royal Children's Hospital, Murdoch Children's Research Institute
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Release 1.2