Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1.

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作者： Axel,Chemla ^[1] ; Giuseppe,Arena ^[2] ; Gizem,Onal ^[3] ; Jonas,Walter ^[4] ; Clara,Berenguer-Escuder ^[1] ; Dajana,Grossmann ^[5] ; Anne,Grünewald ^[6] ; Jens C,Schwamborn ^[4] ; Rejko,Krüger ^[7]

作者单位： Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg. ^[1] Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg. Electronic address: Giuseppe.Arena@uni.lu. ^[2] Department of Physiology, Anatomy and Genetics, University of Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, UK; Department of Medical Biology, Faculty of Medicine, Balikesir University, Turkey. ^[3] Developmental and Cellular Biology, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg. ^[4] Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg; Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany. ^[5] Molecular and Functional Neurobiology, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. ^[6] Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg; Centre Hospitalier de Luxembourg, Luxembourg; Transversal Translational Medicine, Luxembourg Institute of Health (LIH), Luxembourg. Electronic address: Rejko.Krueger@lih.lu. ^[7]

主题词人类(Humans);帕金森病(Parkinson Disease);诱导多能干细胞(Induced Pluripotent Stem Cells);突变(Mutation);成纤维细胞(Fibroblasts);ρGTP结合蛋白质类(rho GTP-Binding Proteins);线粒体蛋白质类(Mitochondrial Proteins)

DOI 10.1016/j.scr.2023.103145

PMID 37364399

发布时间 2023-09-13

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Stem cell research

2023年71卷

103145页

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Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1.

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Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G &gt; A (p.R272Q) or c.1348C &gt; T (p.R450C) in the RHOT1 gene encoding Miro1.

Stem cell research

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Stem cell research

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Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1.