Article (Scientific journals)
Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1.
Chemla, Axel; Arena, Giuseppe; Saraiva, Claudia et al.
2023In Stem Cell Research, 69, p. 103085
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Abstract :
[en] Primary skin fibroblasts from two Parkinson's disease (PD) patients carrying distinct heterozygous mutations in the RHOT1 gene encoding Miro1, namely c.1290A > G (Miro1 p.T351A) and c.2067A > G (Miro1 p.T610A), were converted into induced pluripotent stem cells (iPSCs) by episomal reprogramming. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. Here, we provide a comprehensive characterization and quality assurance of both isogenic pairs, which will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
Chemla, Axel ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience
Arena, Giuseppe  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience
Saraiva, Claudia ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Developmental and Cellular Biology
Berenguer-Escuder, Clara
Grossmann, Dajana
Grünewald, Anne  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Molecular and Functional Neurobiology
Klein, Christine
Seibler, Philip
Schwamborn, Jens Christian ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Developmental and Cellular Biology
Krüger, Rejko ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience
External co-authors :
yes
Language :
English
Title :
Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1.
Publication date :
2023
Journal title :
Stem Cell Research
ISSN :
1876-7753
Publisher :
Elsevier, Amsterdam, Netherlands
Volume :
69
Pages :
103085
Peer reviewed :
Peer Reviewed verified by ORBi
FnR Project :
FNR11676395 - Mitochondrial Risk Factors In Parkinson's Disease, 2017 (01/03/2018-31/08/2021) - Rejko Krüger
Commentary :
Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
Available on ORBilu :
since 06 April 2023

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