Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation

Detalhes bibliográficos
Autor(a) principal: Russ, Kaspar
Data de Publicação: 2018
Outros Autores: Marote, Ana Maria Franco Aveiro, Savchenko, Ekaterina, Collin, Anna, Goldwurm, Stefano, Pomeshchik, Yuriy, 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/1822/57943
Resumo: Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.
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spelling Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutationCell LineCells, CulturedHumansInduced Pluripotent Stem CellsKruppel-Like Transcription FactorsMaleMiddle AgedMutationOctamer Transcription Factor-3Parkinson DiseaseProtein KinasesProto-Oncogene Proteins c-mycSOXB1 Transcription FactorsCiências Médicas::Medicina BásicaScience & TechnologyParkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.We thank AnnaKarin Olden 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 fibroblasts samples. This work was supported by the Strategic Research Environment MultiPark at Lund University, and the strong research environment BAGADILICO (grant 349-2007-8626), the Swedish Parkinson Foundation (Parkinsonoden; grant 889/16), the Swedish Research Council (grant 2015-03684 to LR), Finnish Cultural Foundation (grant 00161167 to YP) and the Portuguese Foundation for Science and Technology for the doctoral fellowship - PDE/BDE/113598/2015 to AM.info:eu-repo/semantics/publishedVersionElsevierUniversidade do MinhoRuss, KasparMarote, Ana Maria Franco AveiroSavchenko, EkaterinaCollin, AnnaGoldwurm, StefanoPomeshchik, YuriyRoybon, Laurent20182018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/57943engRuss, K., Marote, A., Savchenko, E., Collin, A., Goldwurm, S., Pomeshchik, Y., & Roybon, L. (2018). Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p. Q456X mutation. Stem cell research, 27, 61-641873-506110.1016/j.scr.2018.01.00129331938https://www.sciencedirect.com/science/article/pii/S1873506118300011info: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:RCAAP2023-07-21T12:53:15Zoai:repositorium.sdum.uminho.pt:1822/57943Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:52:35.000138Repositório 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 a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
title Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
spellingShingle Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
Russ, Kaspar
Cell Line
Cells, Cultured
Humans
Induced Pluripotent Stem Cells
Kruppel-Like Transcription Factors
Male
Middle Aged
Mutation
Octamer Transcription Factor-3
Parkinson Disease
Protein Kinases
Proto-Oncogene Proteins c-myc
SOXB1 Transcription Factors
Ciências Médicas::Medicina Básica
Science & Technology
title_short Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
title_full Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
title_fullStr Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
title_full_unstemmed Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
title_sort Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
author Russ, Kaspar
author_facet Russ, Kaspar
Marote, Ana Maria Franco Aveiro
Savchenko, Ekaterina
Collin, Anna
Goldwurm, Stefano
Pomeshchik, Yuriy
Roybon, Laurent
author_role author
author2 Marote, Ana Maria Franco Aveiro
Savchenko, Ekaterina
Collin, Anna
Goldwurm, Stefano
Pomeshchik, Yuriy
Roybon, Laurent
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv Russ, Kaspar
Marote, Ana Maria Franco Aveiro
Savchenko, Ekaterina
Collin, Anna
Goldwurm, Stefano
Pomeshchik, Yuriy
Roybon, Laurent
dc.subject.por.fl_str_mv Cell Line
Cells, Cultured
Humans
Induced Pluripotent Stem Cells
Kruppel-Like Transcription Factors
Male
Middle Aged
Mutation
Octamer Transcription Factor-3
Parkinson Disease
Protein Kinases
Proto-Oncogene Proteins c-myc
SOXB1 Transcription Factors
Ciências Médicas::Medicina Básica
Science & Technology
topic Cell Line
Cells, Cultured
Humans
Induced Pluripotent Stem Cells
Kruppel-Like Transcription Factors
Male
Middle Aged
Mutation
Octamer Transcription Factor-3
Parkinson Disease
Protein Kinases
Proto-Oncogene Proteins c-myc
SOXB1 Transcription Factors
Ciências Médicas::Medicina Básica
Science & Technology
description Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.
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/1822/57943
url http://hdl.handle.net/1822/57943
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Russ, K., Marote, A., Savchenko, E., Collin, A., Goldwurm, S., Pomeshchik, Y., & Roybon, L. (2018). Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p. Q456X mutation. Stem cell research, 27, 61-64
1873-5061
10.1016/j.scr.2018.01.001
29331938
https://www.sciencedirect.com/science/article/pii/S1873506118300011
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
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