Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene
Summary
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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Alowaysi M, Astro V, Fiacco E, Alzahrani F, Alkuraya FS, Adamo A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec 28;50:102148 |
| PubMed | 33421754 |
| DOI | 10.1016/j.scr.2020.102148 |