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
in 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epilepsies, Myoclonic
/
Induced Pluripotent Stem Cells
Limits:
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
Hum Cell
/
Hum. cell
/
Human cell
Year:
2024
Document type:
Article
Affiliation country:
Arabia Saudita
Country of publication:
Japón