{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["37(2)"],"submitter":["Alowaysi M"],"funding":["Pfizer Pharmaceuticals"],"pubmed_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."],"journal":["Human cell"],"pagination":["502-510"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10890977"],"repository":["biostudies-literature"],"pubmed_title":["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."],"pmcid":["PMC10890977"],"pubmed_authors":["Badkok A","Attas H","Daghestani M","Al-Ghamdi A","Baadhaim M","Alsayegh K","Aouabdi S","Zia A","Tegner J","Al-Shehri M","Al-Ghamdi K","Aboalola D","Zakri S","Alowaysi M","Alzahrani H"],"additional_accession":[]},"is_claimable":false,"name":"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.","description":"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.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2026-07-01T03:20:34.249Z","creation":"2025-02-19T03:51:33.483Z"},"accession":"S-EPMC10890977","cross_references":{"pubmed":["38110787"],"doi":["10.1007/s13577-023-01016-z"]}}