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dc.contributor.authorAlowaysi, Maryam
dc.contributor.authorAstro, Veronica
dc.contributor.authorFiacco, Elisabetta
dc.contributor.authorAlZahrani, Fatema
dc.contributor.authorAlkuraya, Fowzan S
dc.contributor.authorAdamo, Antonio
dc.date.accessioned2021-01-11T10:46:46Z
dc.date.available2021-01-11T10:46:46Z
dc.date.issued2021-01-09
dc.date.submitted2020-11-02
dc.identifier.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
dc.identifier.issn1873-5061
dc.identifier.pmid33421754
dc.identifier.doi10.1016/j.scr.2020.102148
dc.identifier.urihttp://hdl.handle.net/10754/666863
dc.description.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.
dc.description.sponsorshipThis 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.
dc.publisherElsevier BV
dc.relation.urlhttps://linkinghub.elsevier.com/retrieve/pii/S1873506120304499
dc.rightsThis is an open access article under the CC BY-NC-ND license.
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.titleGeneration of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene.
dc.typeArticle
dc.contributor.departmentBioscience Program
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.identifier.journalStem cell research
dc.eprint.versionPublisher's Version/PDF
dc.contributor.institutionDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
dc.identifier.volume50
dc.identifier.pages102148
kaust.personAlowaysi, Maryam
kaust.personAstro, Veronica
kaust.personFiacco, Elisabetta
kaust.personAdamo, Antonio
kaust.grant.numberBAS 1077-01-01
dc.date.accepted2020-12-23
refterms.dateFOA2021-01-11T10:48:04Z


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