Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene

Glucagon-like peptide-1 receptor (GLP1R) is a seven-transmembrane-spanning helices membrane protein expressed in multiple human tissues including pancreatic islets, lung, brain, heart and central nervous system (CNS). GLP1R agonists are commonly used as antidiabetic drugs, but neuroprotective function neurodegenerative disorders emerging. Here, we established two iPSC lines from patient harboring rare homozygous splice site variant (NM_002062.3; c.402 + 3delG). This displays severe developmental delay epileptic encephalopathy. Therefore, the derivation of these constitutes primary model to study molecular pathology dysfunction develop novel therapeutic targets.