1. 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.
- Author
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Oleksy C, Massart F, Goldwurm S, Arado A, Arena G, Boussaad I, and Krüger R
- Subjects
- Humans, Mutation genetics, Fibroblasts metabolism, Dopaminergic Neurons metabolism, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 genetics, Induced Pluripotent Stem Cells metabolism, Parkinson Disease genetics, Parkinson Disease metabolism
- 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., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
- Published
- 2023
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