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

Maryam Alowaysi; Veronica Astro; Elisabetta Fiacco; Fatema Alzahrani; Fowzan S Alkuraya; Antonio Adamo

doi:10.1016/j.scr.2020.102148

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

Stem Cell Res. 2020 Dec 28:50:102148. doi: 10.1016/j.scr.2020.102148. Online ahead of print.

Authors

Maryam Alowaysi¹, Veronica Astro¹, Elisabetta Fiacco¹, Fatema Alzahrani², Fowzan S Alkuraya³, Antonio Adamo⁴

Affiliations

¹ Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
² Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
³ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: faikuraya@kfshrc.edu.sa.
⁴ Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia. Electronic address: antonio.adamo@kaust.edu.sa.

PMID: 33421754
DOI: 10.1016/j.scr.2020.102148

Abstract

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.