Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene.
Type
ArticleAuthors
Alowaysi, MaryamAstro, Veronica
Fiacco, Elisabetta
AlZahrani, Fatema
Alkuraya, Fowzan S
Adamo, Antonio

KAUST Department
Bioscience ProgramBiological and Environmental Sciences and Engineering (BESE) Division
KAUST Grant Number
BAS 1077-01-01Date
2021-01-09Submitted Date
2020-11-02Permanent link to this record
http://hdl.handle.net/10754/666863
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Show full item recordAbstract
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.Citation
Alowaysi, 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.2020.102148Sponsors
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.Publisher
Elsevier BVJournal
Stem cell researchPubMed ID
33421754Additional Links
https://linkinghub.elsevier.com/retrieve/pii/S1873506120304499ae974a485f413a2113503eed53cd6c53
10.1016/j.scr.2020.102148
Scopus Count
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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