Generation of induced pluripotent stem cell line, ICGi034-A, by reprogramming peripheral blood mononuclear cells from a patient with Parkinson's disease associated with GBA mutation
- PMID: 35007918
- DOI: 10.1016/j.scr.2021.102651
Generation of induced pluripotent stem cell line, ICGi034-A, by reprogramming peripheral blood mononuclear cells from a patient with Parkinson's disease associated with GBA mutation
Abstract
Mutation in the glucocerebrosidase encoding gene (GBA) is one of the most frequent genetic cause of Parkinson's disease. ICGi034-A induced pluripotent stem cell (iPSC) line obtained by reprogramming peripheral blood mononuclear cells (PBMCs) of a patient with heterozygous c.1226A > G (p.N370S) mutation in the GBA gene can be used for studying the fundamental mechanisms of the pathogenesis of GBA-associated Parkinson's disease, and for potential drug screening. The iPSCs express pluripotency markers (NANOG, SSEA4, TRA-1-60, OCT4, SOX2), have a normal karyotype, and are capable of producing derivatives of three germ layers.
Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
Similar articles
-
IPSC-Derived Astrocytes Contribute to In Vitro Modeling of Parkinson's Disease Caused by the GBA1 N370S Mutation.Int J Mol Sci. 2023 Dec 26;25(1):327. doi: 10.3390/ijms25010327. Int J Mol Sci. 2023. PMID: 38203497 Free PMC article.
-
Human induced pluripotent stem cells line (PNUSCRi002-A) from a patient with Parkinson's disease carrying a R159W mutation in the GBA gene.Stem Cell Res. 2022 Dec;65:102948. doi: 10.1016/j.scr.2022.102948. Epub 2022 Oct 17. Stem Cell Res. 2022. PMID: 36274270
-
Generation of Parkinson's disease patient-derived human induced pluripotent stem cells line (PNUSCRi001-A) carrying a N227S mutation in GBA gene.Stem Cell Res. 2022 Dec;65:102959. doi: 10.1016/j.scr.2022.102959. Epub 2022 Oct 31. Stem Cell Res. 2022. PMID: 36332465
-
Insights into GBA Parkinson's disease pathology and therapy with induced pluripotent stem cell model systems.Neurobiol Dis. 2019 Jul;127:1-12. doi: 10.1016/j.nbd.2019.01.023. Epub 2019 Jan 31. Neurobiol Dis. 2019. PMID: 30711484 Review.
-
Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.Neurochem Int. 2016 Feb;93:6-25. doi: 10.1016/j.neuint.2015.12.004. Epub 2015 Dec 30. Neurochem Int. 2016. PMID: 26743617 Review.
Cited by
-
Modeling Alzheimer's Disease: A Review of Gene-Modified and Induced Animal Models, Complex Cell Culture Models, and Computational Modeling.Brain Sci. 2025 May 5;15(5):486. doi: 10.3390/brainsci15050486. Brain Sci. 2025. PMID: 40426657 Free PMC article. Review.
-
Detection of ER Stress in iPSC-Derived Neurons Carrying the p.N370S Mutation in the GBA1 Gene.Biomedicines. 2024 Mar 27;12(4):744. doi: 10.3390/biomedicines12040744. Biomedicines. 2024. PMID: 38672099 Free PMC article.
-
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.Int J Mol Sci. 2023 Feb 23;24(5):4437. doi: 10.3390/ijms24054437. Int J Mol Sci. 2023. PMID: 36901867 Free PMC article.
-
Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease.Int J Mol Sci. 2023 May 22;24(10):9105. doi: 10.3390/ijms24109105. Int J Mol Sci. 2023. PMID: 37240451 Free PMC article.
-
Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients.Cells. 2023 Nov 25;12(23):2702. doi: 10.3390/cells12232702. Cells. 2023. PMID: 38067130 Free PMC article.
LinkOut - more resources
Full Text Sources
Research Materials