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

Maryam Alowaysi; Veronica Astro; Elisabetta Fiacco; Fatema AlZahrani; Fowzan S Alkuraya; Antonio Adamo

doi:10.1016/j.scr.2020.102148

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

Maryam Alowaysi, Veronica Astro, Elisabetta Fiacco, Fatema AlZahrani, Fowzan S Alkuraya, Antonio Adamo

Research output: Contribution to journal › Article › peer-review

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Abstract

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.

Original language	English (US)
Pages (from-to)	102148
Journal	Stem Cell Research
Volume	50
DOIs	https://doi.org/10.1016/j.scr.2020.102148
State	Published - Jan 9 2021

Bibliographical note

KAUST Repository Item: Exported on 2021-01-12
Acknowledged KAUST grant number(s): BAS 1077-01-01
Acknowledgements: 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.

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10.1016/j.scr.2020.102148

https://repository.kaust.edu.sa/bitstream/10754/666863/1/Generation%20of.pdf

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@article{90de2698e9ec4353851993aade2f5779,

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

abstract = "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.",

author = "Maryam Alowaysi and Veronica Astro and Elisabetta Fiacco and Fatema AlZahrani and Alkuraya, {Fowzan S} and Antonio Adamo",

note = "KAUST Repository Item: Exported on 2021-01-12 Acknowledged KAUST grant number(s): BAS 1077-01-01 Acknowledgements: 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.",

year = "2021",

month = jan,

day = "9",

doi = "10.1016/j.scr.2020.102148",

language = "English (US)",

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journal = "Stem Cell Research",

issn = "1873-5061",

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AU - Alowaysi, Maryam

AU - Astro, Veronica

AU - Fiacco, Elisabetta

AU - AlZahrani, Fatema

AU - Alkuraya, Fowzan S

AU - Adamo, Antonio

N1 - KAUST Repository Item: Exported on 2021-01-12 Acknowledged KAUST grant number(s): BAS 1077-01-01 Acknowledgements: 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.

PY - 2021/1/9

Y1 - 2021/1/9

N2 - 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.

AB - 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.

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M3 - Article

C2 - 33421754

SN - 1873-5061

VL - 50

SP - 102148

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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

Abstract

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