4.2 Article

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

Journal

STEM CELL RESEARCH
Volume 50, Issue -, Pages -

Publisher

ELSEVIER
DOI: 10.1016/j.scr.2020.102148

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Funding

  1. KAUST [BAS 1077-01-01]
  2. KAUST Smart Health Initiative grants [REI/1/4467-01-01, REI/1/4560-01-01]
  3. King Faisal Specialist Hospital and Research Centre [Pt-15DG1507]

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GLP1R is a protein expressed in multiple human tissues, with GLP1R agonists commonly used as antidiabetic drugs and also showing potential neuroprotective function. iPSC lines derived from a patient with a GLP1R variant can be used as a model to study the molecular pathology of GLP1R dysfunction.
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 neuropmtective 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.

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