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

Axel Chemla; Giuseppe Arena; Gizem Onal; Jonas Walter; Clara Berenguer-Escuder; Dajana Grossmann; Anne Grünewald; Jens C Schwamborn; Rejko Krüger

doi:10.1016/j.scr.2023.103145

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

Stem Cell Res. 2023 Sep:71:103145. doi: 10.1016/j.scr.2023.103145. Epub 2023 Jun 14.

Authors

Axel Chemla¹, Giuseppe Arena², Gizem Onal³, Jonas Walter⁴, Clara Berenguer-Escuder¹, Dajana Grossmann⁵, Anne Grünewald⁶, Jens C Schwamborn⁴, Rejko Krüger⁷

Affiliations

¹ Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg.
² Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg. Electronic address: Giuseppe.Arena@uni.lu.
³ 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.
⁴ Developmental and Cellular Biology, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg.
⁵ 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.
⁶ Molecular and Functional Neurobiology, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
⁷ 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.

PMID: 37364399
DOI: 10.1016/j.scr.2023.103145

Abstract

Fibroblasts from two Parkinson's disease (PD) patients carrying either the heterozygous mutation c.815G > A (Miro1 p.R272Q) or c.1348C > T (Miro1 p.R450C) in the RHOT1 gene, were converted into induced pluripotent stem cells (iPSCs) using RNA-based and episomal reprogramming, respectively. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. These two isogenic pairs will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in relevant iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Dopaminergic Neurons / metabolism
Fibroblasts / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Mitochondrial Proteins / genetics
Mutation / genetics
Parkinson Disease* / genetics
Parkinson Disease* / metabolism
rho GTP-Binding Proteins / metabolism

Substances

RHOT1 protein, human
rho GTP-Binding Proteins
Mitochondrial Proteins