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.
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
OLEKSY, Christiane ; University of Luxembourg > Faculty of Science, Technology and Medicine (FSTM) > Department of Life Sciences and Medicine (DLSM)
Massart, François; Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg
Goldwurm, Stefano; University of Turin, Department of Neuroscience, Italy, Parkinson Institute, ASST "Pini-CTO", Milano, Italy
Arado, Alessia; Laboratory of Human Genetics - IRCCS Istituto G. Gaslini, Genova, Italy
ARENA, Giuseppe ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience
BOUSSAAD, Ibrahim ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience
Krüger, Rejko; 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
External co-authors :
yes
Language :
English
Title :
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.
The Cell Line and DNA Biobank from Patients affected by Genetic Diseases (Instituto G. Gaslini) and the “Parkinson Institute Biobank” (Milan, http://www.parkinsonbiobank.com/ ), members of the telethon network of Genetic Biobanks (project no. GTB12001) funded by Telethon Italy, provided us with specimens. Work of RK is supported by the Fonds National de Recherche (FNR) within the following projects: National Centre for Excellence in Research on Parkinson’s disease (NCER-PD) (FNR; NCER13/BM/11264123), PEARL (/P13/6682797), MotaSYN (12719684), MAMaSyn (INTER/LEIR/18/12719318) and MiRisk (C17/BM/ 11676395). Work of GA is supported by the FNR, grant number C21/BM/15850547/PINK1-DiaPDs.The Cell Line and DNA Biobank from Patients affected by Genetic Diseases (Instituto G. Gaslini) and the “Parkinson Institute Biobank” (Milan, http://www.parkinsonbiobank.com/), members of the telethon network of Genetic Biobanks (project no. GTB12001) funded by Telethon Italy, provided us with specimens. Work of RK is supported by the Fonds National de Recherche (FNR) within the following projects: National Centre for Excellence in Research on Parkinson's disease (NCER-PD) (FNR; NCER13/BM/11264123), PEARL (/P13/6682797), MotaSYN (12719684), MAMaSyn (INTER/LEIR/18/12719318) and MiRisk (C17/BM/ 11676395). Work of GA is supported by the FNR, grant number C21/BM/15850547/PINK1-DiaPDs.
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