Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene

Nadja Gustavsson; Ana Marote; Yuriy Pomeshchik; Kaspar Russ; Carla Azevedo; Margarita Chumarina; Stefano Goldwurm; Anna Collin; Luisa Pinto; António J. Salgado; Oxana Klementieva; Laurent Roybon; Ekaterina Savchenko

doi:10.1016/j.scr.2018.101373

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene

Nadja Gustavsson, Ana Marote, Yuriy Pomeshchik, Kaspar Russ, Carla Azevedo, Margarita Chumarina, Stefano Goldwurm, Anna Collin, Luisa Pinto, António J. Salgado, Oxana Klementieva, Laurent Roybon, Ekaterina Savchenko

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

Abstract

Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibroblasts into iPSCs. The generated iPSC line retained the mutation, displayed expression of common pluripotency markers, differentiated into the three germ layers, and exhibited normal karyotype. The iPSC line can be further used for studying PD pathogenesis.

Original language	English
Article number	101373
Journal	Stem Cell Research
Volume	34
DOIs	https://doi.org/10.1016/j.scr.2018.101373
Publication status	Published - 2019

Subject classification (UKÄ)

Neurosciences
Cell and Molecular Biology

Access to Document

10.1016/j.scr.2018.101373

2 Doctoral Thesis (compilation)

On the nature of mixed neurodegenerative amyloidopathies
Gustavsson, N., 2021, Lund: Lund University, Faculty of Medicine. 74 p.
Research output: Thesis › Doctoral Thesis (compilation)
Stem cell-based models to study cellular alterations in Parkinson’s Disease
Chumarina, M., 2020, Lund: Lund University, Faculty of Medicine. 84 p.
Research output: Thesis › Doctoral Thesis (compilation)

Lund Nano Lab - part of national infrastructure Myfab
Hankin, L. (Manager)
NanoLund: Centre for Nanoscience
Infrastructure

Cite this

Gustavsson, N., Marote, A., Pomeshchik, Y., Russ, K., Azevedo, C., Chumarina, M., Goldwurm, S., Collin, A., Pinto, L., Salgado, A. J., Klementieva, O., Roybon, L., & Savchenko, E. (2019). Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene. Stem Cell Research, 34, Article 101373. https://doi.org/10.1016/j.scr.2018.101373

@article{2ff887a23f0b4dfc9d80a7b6089f5e1e,

title = "Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene",

abstract = "Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibroblasts into iPSCs. The generated iPSC line retained the mutation, displayed expression of common pluripotency markers, differentiated into the three germ layers, and exhibited normal karyotype. The iPSC line can be further used for studying PD pathogenesis.",

author = "Nadja Gustavsson and Ana Marote and Yuriy Pomeshchik and Kaspar Russ and Carla Azevedo and Margarita Chumarina and Stefano Goldwurm and Anna Collin and Luisa Pinto and Salgado, {Ant{\'o}nio J.} and Oxana Klementieva and Laurent Roybon and Ekaterina Savchenko",

year = "2019",

doi = "10.1016/j.scr.2018.101373",

language = "English",

volume = "34",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

Gustavsson, N, Marote, A, Pomeshchik, Y, Russ, K, Azevedo, C, Chumarina, M, Goldwurm, S, Collin, A, Pinto, L, Salgado, AJ, Klementieva, O, Roybon, L & Savchenko, E 2019, 'Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene', Stem Cell Research, vol. 34, 101373. https://doi.org/10.1016/j.scr.2018.101373

TY - JOUR

T1 - Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene

AU - Gustavsson, Nadja

AU - Marote, Ana

AU - Pomeshchik, Yuriy

AU - Russ, Kaspar

AU - Azevedo, Carla

AU - Chumarina, Margarita

AU - Goldwurm, Stefano

AU - Collin, Anna

AU - Pinto, Luisa

AU - Salgado, António J.

AU - Klementieva, Oxana

AU - Roybon, Laurent

AU - Savchenko, Ekaterina

PY - 2019

Y1 - 2019

N2 - Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibroblasts into iPSCs. The generated iPSC line retained the mutation, displayed expression of common pluripotency markers, differentiated into the three germ layers, and exhibited normal karyotype. The iPSC line can be further used for studying PD pathogenesis.

AB - Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibroblasts into iPSCs. The generated iPSC line retained the mutation, displayed expression of common pluripotency markers, differentiated into the three germ layers, and exhibited normal karyotype. The iPSC line can be further used for studying PD pathogenesis.

U2 - 10.1016/j.scr.2018.101373

DO - 10.1016/j.scr.2018.101373

M3 - Article

C2 - 30640063

AN - SCOPUS:85059679452

SN - 1873-5061

VL - 34

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101373

ER -

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene

Abstract

Subject classification (UKÄ)

Access to Document

Fingerprint

Research output

On the nature of mixed neurodegenerative amyloidopathies

Stem cell-based models to study cellular alterations in Parkinson’s Disease

Equipment

Lund Nano Lab - part of national infrastructure Myfab

Cite this