Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene

Detalhes bibliográficos
Autor(a) principal: Marote, Ana Maria Franco Aveiro
Data de Publicação: 2018
Outros Autores: Pomeshchik, Yuriy, Goldwurm, Stefano, Collin, Anna, Lamas, Nuno Jorge, 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/1822/57889
Resumo: Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C>T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype. This iPSC line can be used to explore the association between PARK2 mutations and PD.
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spelling Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 geneAdultAgedCell DifferentiationCells, CulturedCellular ReprogrammingFemaleHeterozygoteHumansInduced Pluripotent Stem CellsMutationParkinson DiseaseUbiquitin-Protein LigasesCiências Médicas::Medicina BásicaScience & TechnologyMutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C>T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype. This iPSC line can be used to explore the association between PARK2 mutations and PD.‘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 (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 fellowshipinfo:eu-repo/semantics/publishedVersionElsevierUniversidade do MinhoMarote, Ana Maria Franco AveiroPomeshchik, YuriyGoldwurm, StefanoCollin, AnnaLamas, Nuno JorgePinto, LuísaSalgado, A. J.Roybon, Laurent2018-032018-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/57889engMarote, A., Pomeshchik, Y., Goldwurm, S., et. al.(2018). Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c. 823C> T and EX6 del) in the PARK2 gene. Stem cell research, 27, 90-941873-50611876-775310.1016/j.scr.2018.01.00629353703https://www.sciencedirect.com/science/article/pii/S1873506118300060info: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:RCAAP2023-07-21T12:37:41Zoai:repositorium.sdum.uminho.pt:1822/57889Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:34:00.675900Repositório 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-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
title Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
spellingShingle Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
Marote, Ana Maria Franco Aveiro
Adult
Aged
Cell Differentiation
Cells, Cultured
Cellular Reprogramming
Female
Heterozygote
Humans
Induced Pluripotent Stem Cells
Mutation
Parkinson Disease
Ubiquitin-Protein Ligases
Ciências Médicas::Medicina Básica
Science & Technology
title_short Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
title_full Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
title_fullStr Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
title_sort Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
author Marote, Ana Maria Franco Aveiro
author_facet Marote, Ana Maria Franco Aveiro
Pomeshchik, Yuriy
Goldwurm, Stefano
Collin, Anna
Lamas, Nuno Jorge
Pinto, Luísa
Salgado, A. J.
Roybon, Laurent
author_role author
author2 Pomeshchik, Yuriy
Goldwurm, Stefano
Collin, Anna
Lamas, Nuno Jorge
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 Maria Franco Aveiro
Pomeshchik, Yuriy
Goldwurm, Stefano
Collin, Anna
Lamas, Nuno Jorge
Pinto, Luísa
Salgado, A. J.
Roybon, Laurent
dc.subject.por.fl_str_mv Adult
Aged
Cell Differentiation
Cells, Cultured
Cellular Reprogramming
Female
Heterozygote
Humans
Induced Pluripotent Stem Cells
Mutation
Parkinson Disease
Ubiquitin-Protein Ligases
Ciências Médicas::Medicina Básica
Science & Technology
topic Adult
Aged
Cell Differentiation
Cells, Cultured
Cellular Reprogramming
Female
Heterozygote
Humans
Induced Pluripotent Stem Cells
Mutation
Parkinson Disease
Ubiquitin-Protein Ligases
Ciências Médicas::Medicina Básica
Science & Technology
description Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C>T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype. This iPSC line can be used to explore the association between PARK2 mutations and PD.
publishDate 2018
dc.date.none.fl_str_mv 2018-03
2018-03-01T00:00:00Z
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/1822/57889
url http://hdl.handle.net/1822/57889
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Marote, A., Pomeshchik, Y., Goldwurm, S., et. al.(2018). Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c. 823C> T and EX6 del) in the PARK2 gene. Stem cell research, 27, 90-94
1873-5061
1876-7753
10.1016/j.scr.2018.01.006
29353703
https://www.sciencedirect.com/science/article/pii/S1873506118300060
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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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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