Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A.
Hum Cell
; 37(2): 502-510, 2024 Mar.
Article
en En
| MEDLINE
| ID: mdl-38110787
ABSTRACT
The most prevalent form of epileptic encephalopathy is Dravet syndrome (DRVT), which is triggered by the pathogenic variant SCN1A in 80% of cases. iPSCs with different SCN1A mutations have been constructed by several groups to model DRVT syndrome. However, no studies involving DRVT-iPSCs with rare genetic variants have been conducted. Here, we established two DRVT-iPSC lines harboring a homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A gene. Therefore, the derivation of these iPSC lines provides a unique cellular platform to dissect the molecular mechanisms underlying the cellular dysfunctions consequent to CPLX1 and SCN9A mutations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Epilepsias Mioclónicas
/
Células Madre Pluripotentes Inducidas
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Hum Cell
Año:
2024
Tipo del documento:
Article
País de afiliación:
Arabia Saudita
Pais de publicación:
JAPAN
/
JAPON
/
JAPÃO
/
JP