Your browser doesn't support javascript.
loading
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 Nav1.2.
Ovchinnikov, Dmitry A; Jong, Sharon; Cuddy, Claire; Dalby, Kelly; Devinsky, Orrin; Mullen, Saul; Maljevic, Snezana; Petrou, Steve.
Afiliación
  • Ovchinnikov DA; The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne 3010 VIC, Australia.
  • Jong S; The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne 3010 VIC, Australia.
  • Cuddy C; The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne 3010 VIC, Australia.
  • Dalby K; Praxis Precision Medicines, Cambridge, MA, USA.
  • Devinsky O; Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.
  • Mullen S; The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne 3010 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.
  • Maljevic S; The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne 3010 VIC, Australia. Electronic address: snezana.maljevic@florey.edu.au.
  • Petrou S; The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Melbourne 3010 VIC, Australia; Praxis Precision Medicines, Cambridge, MA, USA. Electronic address: steven.petrou@florey.edu.au.
Stem Cell Res ; 76: 103367, 2024 Apr.
Article en En | MEDLINE | ID: mdl-38479087
ABSTRACT
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 Nav1.2(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.
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Células Madre Pluripotentes Inducidas Límite: Humans / Male Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Células Madre Pluripotentes Inducidas Límite: Humans / Male Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido