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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

2023-10-04

Abstract excerpt

<title>Abstract</title> <p>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...

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Literature Corpus work
a4abc297-b41d-5b9b-ab19-b1fd80895645
DOI
10.21203/rs.3.rs-3390070/v1
Open publication

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Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet Syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9ADOI 10.21203/rs.3.rs-3390070/v1
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