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

Christiane Oleksy
, François Massart
, Stefano Goldwurm
, Alessia Arado
, Giuseppe Arena
, Ibrahim Boussaad
, Rejko Krüger^*

^*Corresponding author for this work

Transversal Translational Medicine

Research output: Contribution to journal › Article › Research › peer-review

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.

Original language	English
Article number	103212
Journal	Stem Cell Research
Volume	72
Early online date	28 Sept 2023
DOIs	https://doi.org/10.1016/j.scr.2023.103212
Publication status	Published - Oct 2023

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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",

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.",

author = "Christiane Oleksy and Fran{\c c}ois Massart and Stefano Goldwurm and Alessia Arado and Giuseppe Arena and Ibrahim Boussaad and Rejko Kr{\"u}ger",

note = "Funding Information: 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{\textquoteright}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. Publisher Copyright: {\textcopyright} 2023 The Author(s)",

year = "2023",

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doi = "10.1016/j.scr.2023.103212",

language = "English",

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journal = "Stem Cell Research",

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AU - Oleksy, Christiane

AU - Massart, François

AU - Goldwurm, Stefano

AU - Arado, Alessia

AU - Arena, Giuseppe

AU - Boussaad, Ibrahim

AU - Krüger, Rejko

N1 - Funding Information: 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. Publisher Copyright: © 2023 The Author(s)

PY - 2023/10

Y1 - 2023/10

N2 - 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.

AB - 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.

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UR - https://pubmed.ncbi.nlm.nih.gov/37832355

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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

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