Article
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.
Human cell - 1 Mar 2024
Alowaysi Maryam, Al-Shehri Mohammad, Badkok Amani, Attas Hanouf, Aboalola Doaa, Baadhaim Moayad, Alzahrani Hajar, Daghestani Mustafa, Zia Asima, Al-Ghamdi Khalid, Al-Ghamdi Asayil, Zakri Samer, Aouabdi Sihem, Tegner Jesper, Alsayegh Khaled
Abstract excerpt
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...
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