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

Detalhes bibliográficos
Autor(a) principal: Gustavsson, Nadja
Data de Publicação: 2019
Outros Autores: Marote, Ana, Pomeshchik, Yuriy, Russ, Kaspar, Azevedo, Carla, Chumarina, Margarita, Goldwurm, Stefano, Collin, Anna, Pinto, Luísa, Salgado, A. J., Klementieva, Oxana, Roybon, Laurent, Savchenko, Ekaterina
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/1822/62339
Resumo: 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.
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spelling 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 geneAnimalsCell Culture TechniquesCell LineGlucosylceramidaseHumansInduced Pluripotent Stem CellsMaleMiceMiddle AgedMutationParkinson DiseaseCiências Médicas::Medicina BásicaScience & TechnologyMutations 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.We thank AnnaKarin Olden, Anna Hammarberg and Marianne Juhlin, for their technical support. We are also thankful 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 fibroblast samples. This work was supported by the Strategic Research Environment MultiPark at Lund University, the Swedish Research Council (grant 2015-03684 to LR), Finnish Cultural Foundation (grant 00161167 to YP), Portuguese Foundation for Science and Technology for the doctoral fellowship - PDE/BDE/113598/2015 to AM and IF Starting and Development Grant to LP and AJS (IF/01079/2014 and IF/00111/2013).ElsevierUniversidade do MinhoGustavsson, NadjaMarote, AnaPomeshchik, YuriyRuss, KasparAzevedo, CarlaChumarina, MargaritaGoldwurm, StefanoCollin, AnnaPinto, LuísaSalgado, A. J.Klementieva, OxanaRoybon, LaurentSavchenko, Ekaterina2019-012019-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/62339engGustavsson, N., Marote, A., Pomeshchik, Y., et. al. (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, 101373.1873-50611876-775310.1016/j.scr.2018.10137330640063https://www.sciencedirect.com/science/article/pii/S1873506118303088info: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:RCAAP2023-07-21T12:41:13Zoai:repositorium.sdum.uminho.pt:1822/62339Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:38:08.119349Repositório 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-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene
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
spellingShingle 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
Gustavsson, Nadja
Animals
Cell Culture Techniques
Cell Line
Glucosylceramidase
Humans
Induced Pluripotent Stem Cells
Male
Mice
Middle Aged
Mutation
Parkinson Disease
Ciências Médicas::Medicina Básica
Science & Technology
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
author Gustavsson, Nadja
author_facet Gustavsson, Nadja
Marote, Ana
Pomeshchik, Yuriy
Russ, Kaspar
Azevedo, Carla
Chumarina, Margarita
Goldwurm, Stefano
Collin, Anna
Pinto, Luísa
Salgado, A. J.
Klementieva, Oxana
Roybon, Laurent
Savchenko, Ekaterina
author_role author
author2 Marote, Ana
Pomeshchik, Yuriy
Russ, Kaspar
Azevedo, Carla
Chumarina, Margarita
Goldwurm, Stefano
Collin, Anna
Pinto, Luísa
Salgado, A. J.
Klementieva, Oxana
Roybon, Laurent
Savchenko, Ekaterina
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv Gustavsson, Nadja
Marote, Ana
Pomeshchik, Yuriy
Russ, Kaspar
Azevedo, Carla
Chumarina, Margarita
Goldwurm, Stefano
Collin, Anna
Pinto, Luísa
Salgado, A. J.
Klementieva, Oxana
Roybon, Laurent
Savchenko, Ekaterina
dc.subject.por.fl_str_mv Animals
Cell Culture Techniques
Cell Line
Glucosylceramidase
Humans
Induced Pluripotent Stem Cells
Male
Mice
Middle Aged
Mutation
Parkinson Disease
Ciências Médicas::Medicina Básica
Science & Technology
topic Animals
Cell Culture Techniques
Cell Line
Glucosylceramidase
Humans
Induced Pluripotent Stem Cells
Male
Mice
Middle Aged
Mutation
Parkinson Disease
Ciências Médicas::Medicina Básica
Science & Technology
description 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.
publishDate 2019
dc.date.none.fl_str_mv 2019-01
2019-01-01T00:00:00Z
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/1822/62339
url http://hdl.handle.net/1822/62339
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Gustavsson, N., Marote, A., Pomeshchik, Y., et. al. (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, 101373.
1873-5061
1876-7753
10.1016/j.scr.2018.101373
30640063
https://www.sciencedirect.com/science/article/pii/S1873506118303088
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
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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
repository.mail.fl_str_mv
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