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 a neuroprotective function in neurodegenerative disorders is emerging. Here, we established two iPSC lines from a patient harboring a rare homozygous splice site variant in GLP1R (NM_002062.3; c.402 + 3delG). This patient displays severe developmental delay and epileptic encephalopathy. Therefore, the derivation of these iPSC lines constitutes a primary model to study the molecular pathology of GLP1R dysfunction and develop novel therapeutic targets.
Bibliographical noteKAUST Repository Item: Exported on 2021-01-12
Acknowledged KAUST grant number(s): BAS 1077-01-01
Acknowledgements: This work was funded by KAUST baseline (BAS 1077-01-01), KAUST Smart Health Initiative grants (REI/1/4467-01-01 and REI/1/4560-01-01) to A.A. The following cell line was obtained from King Faisal Specialist Hospital and Research Centre Pt-15DG1507. We also acknowledge WiCell as the original source of the H1 hESC line.