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

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

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 func...

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Main Authors: Maryam Alowaysi, Veronica Astro, Elisabetta Fiacco, Fatema Alzahrani, Fowzan S. Alkuraya, Antonio Adamo
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120304499
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spelling doaj-37d2f17810c8471e86f6a0389d8a8f7e2021-01-30T04:26:50ZengElsevierStem Cell Research1873-50612021-01-0150102148Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R geneMaryam Alowaysi0Veronica Astro1Elisabetta Fiacco2Fatema Alzahrani3Fowzan S. Alkuraya4Antonio Adamo5Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi ArabiaBiological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi ArabiaBiological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Corresponding authors.Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506120304499
collection DOAJ
language English
format Article
sources DOAJ
author Maryam Alowaysi
Veronica Astro
Elisabetta Fiacco
Fatema Alzahrani
Fowzan S. Alkuraya
Antonio Adamo
spellingShingle Maryam Alowaysi
Veronica Astro
Elisabetta Fiacco
Fatema Alzahrani
Fowzan S. Alkuraya
Antonio Adamo
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
author_facet Maryam Alowaysi
Veronica Astro
Elisabetta Fiacco
Fatema Alzahrani
Fowzan S. Alkuraya
Antonio Adamo
author_sort Maryam Alowaysi
title Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene
title_short Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene
title_full Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene
title_fullStr Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene
title_full_unstemmed Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene
title_sort generation of ipsc lines (kausti011-a, kausti011-b) from a saudi patient with epileptic encephalopathy carrying homozygous mutation in the glp1r gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-01-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506120304499
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