Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene.
Alkuraya, Fowzan S
KAUST DepartmentBioscience Program
Biological and Environmental Sciences and Engineering (BESE) Division
KAUST Grant NumberBAS 1077-01-01
Permanent link to this recordhttp://hdl.handle.net/10754/666863
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AbstractGlucagon-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.
CitationAlowaysi, M., Astro, V., Fiacco, E., Alzahrani, F., Alkuraya, F. S., & Adamo, A. (2021). Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene. Stem Cell Research, 50, 102148. doi:10.1016/j.scr.2020.102148
SponsorsThis 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.
JournalStem cell research
Except where otherwise noted, this item's license is described as This is an open access article under the CC BY-NC-ND license.
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