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.
[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.
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
Bibliography
Berenguer-Escuder, C., Grossmann, D., Massart, F., Antony, P., Burbulla, L.F., Glaab, E., et al. Variants in Miro1 cause alterations of ER-mitochondria contact sites in fibroblasts from Parkinson's disease patients. J. Clin. Med., 8, 2019, 2226, 10.3390/jcm8122226.
Berenguer-Escuder, C., Grossmann, D., Antony, P., Arena, G., Wasner, K., Massart, F., Jarazo, J., Walter, J., Schwamborn, J.C., Grünewald, A., Krüger, R., Impaired mitochondrial-endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease. Hum. Mol. Genet. 29:8 (2020), 1353–1364, 10.1093/hmg/ddaa066.
Grossmann, D., Berenguer-Escuder, C., Bellet, M.E., Scheibner, D., Bohler, J., Massart, F., Rapaport, D., Skupin, A., Fouquier d'Hérouël, A., Sharma, M., Ghelfi, J., Raković, A., Lichtner, P., Antony, P., Glaab, E., May, P., Dimmer, K.S., Fitzgerald, J.C., Grünewald, A., Krüger, R., Mutations in RHOT1 disrupt endoplasmic reticulum-mitochondria contact sites interfering with calcium homeostasis and mitochondrial dynamics in Parkinson's disease. Antioxid. Redox Signal. 31:16 (2019), 1213–1234, 10.1089/ars.2018.7718.
Grossmann, D., Berenguer-Escuder, C., Chemla, A., Arena, G., Kruger, R., The Emerging Role of RHOT1/Miro1 in the Pathogenesis of Parkinson's Disease. Front. Neurol., 11, 2020, 587, 10.3389/fneur.2020.00587.
