Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

Christiane Oleksy; François Massart; Stefano Goldwurm; Alessia Arado; Giuseppe Arena; Ibrahim Boussaad; Rejko Krüger

doi:10.1016/j.scr.2023.103212

Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

Stem Cell Res. 2023 Oct:72:103212. doi: 10.1016/j.scr.2023.103212. Epub 2023 Sep 28.

Authors

Christiane Oleksy¹, François Massart¹, Stefano Goldwurm², Alessia Arado³, Giuseppe Arena¹, Ibrahim Boussaad¹, Rejko Krüger⁴

Affiliations

¹ Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg.
² University of Turin, Department of Neuroscience, Italy; Parkinson Institute, ASST "Pini-CTO", Milano, Italy.
³ Laboratory of Human Genetics - IRCCS Istituto G. Gaslini, Genova, Italy.
⁴ Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg; Transversal Translational Medicine, Luxembourg Institute of Health (LIH), Strassen, Luxembourg; Parkinson Research Clinic, Center Hospitalier de Luxembourg (CHL), Luxembourg. Electronic address: rejko.krueger@lih.lu.

PMID: 37832355
DOI: 10.1016/j.scr.2023.103212

Abstract

We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson's disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and the p.N409S mutation in the GBA1 gene. iPSCs were generated via Sendai virus transduction of Yamanaka factors. The presence of GBA1 p.N409S and LRRK2 p.G2019S was confirmed by Sanger sequencing. The iPSCs express pluripotency markers, are capable of in vitro differentiation into the three germ layers and have a normal karyotype. The newly generated line will be used for in vitro PD modeling by investigating the role of each mutation in iPSC-derived dopaminergic neurons.

MeSH terms

Dopaminergic Neurons / metabolism
Fibroblasts / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics
Mutation / genetics
Parkinson Disease* / genetics
Parkinson Disease* / metabolism

Substances

LRRK2 protein, human
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2