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.

胰高血糖素样肽-1 受体 (GLP1R) 是一种七跨膜螺旋膜蛋白，在多种人体组织中表达，包括胰岛、肺、脑、心脏和中枢神经系统 (CNS)。 GLP1R 激动剂通常用作抗糖尿病药物，但在神经退行性疾病中的神经保护功能正在兴起。在这里，我们从GLP1R中携带罕见纯合剪接位点变异的患者中建立了两个 iPSC 系（NM_002062.3；c.402 + 3delG）。该患者表现出严重的发育迟缓和癫痫性脑病。因此，这些 iPSC 系的衍生构成了研究 GLP1R 功能障碍的分子病理学和开发新治疗靶点的主要模型。