Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene

Detalhes bibliográficos
Autor(a) principal: Marote, Ana
Data de Publicação: 2018
Outros Autores: Pomeshchik, Yuriy, Collin, Anna, Goldwurm, Stefano, Lamas, Nuno J., Pinto, Luísa, Salgado, A. J., Roybon, Laurent
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/1822/57877
Resumo: The leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation is the most common genetic cause of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line CSC-41 was generated from a 75-year old patient diagnosed with PD caused by a p.G2019S mutation in LRRK2. Skin fibroblasts were reprogrammed using a non-integrating Sendai virus-based technology to deliver OCT3/4, SOX2, c-MYC and KLF4 transcription factors. The generated iPSC line exhibits expression of common pluripotency markers, differentiates into the three germ layers and has a normal karyotype. The iPSC line can be used to explore the association between LRRK2 mutation and PD.
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spelling Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 geneAgedAnimalsCell Culture TechniquesCell LineFemaleHumansInduced Pluripotent Stem CellsLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MiceMutationParkinson DiseaseCiências Médicas::Medicina BásicaScience & TechnologyThe leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation is the most common genetic cause of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line CSC-41 was generated from a 75-year old patient diagnosed with PD caused by a p.G2019S mutation in LRRK2. Skin fibroblasts were reprogrammed using a non-integrating Sendai virus-based technology to deliver OCT3/4, SOX2, c-MYC and KLF4 transcription factors. The generated iPSC line exhibits expression of common pluripotency markers, differentiates into the three germ layers and has a normal karyotype. The iPSC line can be used to explore the association between LRRK2 mutation and PD.We are greatly thankful to AnnaKarin Olden and Marianne Juhlin, for their technical assistance and to the 'Cell Line and DNA Biobank from Patients affected by Genetic Diseases' (Istituto G. Gaslini, Genova, Italy) and the Parkinson Institute Biobank, members of the Telethon Network of Genetic Biobanks (http://biobanknetwork.telethon.it; project no. GTB12001) funded by Telethon Italy, for providing fibroblasts samples. This work was supported by the Strategic Research Environment MultiPark at Lund University, the strong research environment BAGADILICO (grant 349-2007-8626), the Swedish Parkinson Foundation (Parkinsonfonden, grant 889/16), the Swedish Research Council (grant 2015-03684 to LR) and Finnish Cultural Foundation (grant 00161167 to YP). We also acknowledge the Portuguese Foundation for Science and Technology for the doctoral fellowship - PDE/BDE/113598/2015 to AM and IF Starting and Development Grants to LP and AJS (IF/00111/2013 and IF/01079/2014), respectively.info:eu-repo/semantics/publishedVersionElsevierUniversidade do MinhoMarote, AnaPomeshchik, YuriyCollin, AnnaGoldwurm, StefanoLamas, Nuno J.Pinto, LuísaSalgado, A. J.Roybon, Laurent20182018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/57877engMarote, A., Pomeshchik, Y., Collin, A., Goldwurm, S., et. al.(2018). Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p. G2019S mutation in the LRRK2 gene. Stem cell research, 28, 44-471873-50611876-775310.1016/j.scr.2018.01.02229414418https://www.sciencedirect.com/science/article/pii/S187350611830028Xinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:10:26Zoai:repositorium.sdum.uminho.pt:1822/57877Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:02:04.413218Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
title Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
spellingShingle Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
Marote, Ana
Aged
Animals
Cell Culture Techniques
Cell Line
Female
Humans
Induced Pluripotent Stem Cells
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Mice
Mutation
Parkinson Disease
Ciências Médicas::Medicina Básica
Science & Technology
title_short Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
title_full Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
title_fullStr Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
title_sort Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
author Marote, Ana
author_facet Marote, Ana
Pomeshchik, Yuriy
Collin, Anna
Goldwurm, Stefano
Lamas, Nuno J.
Pinto, Luísa
Salgado, A. J.
Roybon, Laurent
author_role author
author2 Pomeshchik, Yuriy
Collin, Anna
Goldwurm, Stefano
Lamas, Nuno J.
Pinto, Luísa
Salgado, A. J.
Roybon, Laurent
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv Marote, Ana
Pomeshchik, Yuriy
Collin, Anna
Goldwurm, Stefano
Lamas, Nuno J.
Pinto, Luísa
Salgado, A. J.
Roybon, Laurent
dc.subject.por.fl_str_mv Aged
Animals
Cell Culture Techniques
Cell Line
Female
Humans
Induced Pluripotent Stem Cells
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Mice
Mutation
Parkinson Disease
Ciências Médicas::Medicina Básica
Science & Technology
topic Aged
Animals
Cell Culture Techniques
Cell Line
Female
Humans
Induced Pluripotent Stem Cells
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Mice
Mutation
Parkinson Disease
Ciências Médicas::Medicina Básica
Science & Technology
description The leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation is the most common genetic cause of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line CSC-41 was generated from a 75-year old patient diagnosed with PD caused by a p.G2019S mutation in LRRK2. Skin fibroblasts were reprogrammed using a non-integrating Sendai virus-based technology to deliver OCT3/4, SOX2, c-MYC and KLF4 transcription factors. The generated iPSC line exhibits expression of common pluripotency markers, differentiates into the three germ layers and has a normal karyotype. The iPSC line can be used to explore the association between LRRK2 mutation and PD.
publishDate 2018
dc.date.none.fl_str_mv 2018
2018-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/1822/57877
url http://hdl.handle.net/1822/57877
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Marote, A., Pomeshchik, Y., Collin, A., Goldwurm, S., et. al.(2018). Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p. G2019S mutation in the LRRK2 gene. Stem cell research, 28, 44-47
1873-5061
1876-7753
10.1016/j.scr.2018.01.022
29414418
https://www.sciencedirect.com/science/article/pii/S187350611830028X
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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