Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency

Detalhes bibliográficos
Autor(a) principal: Sampaio, Gabriela Louise de Almeida
Data de Publicação: 2019
Outros Autores: Martins, Gabriele Louise Soares, Paredes, Bruno Diaz, Nonaka, Carolina Kymie Vasques, Silva, Katia Nunes da, Rossi, Erik Aranha, Santos, Ricardo Ribeiro dos, Soares, Milena Botelho Pereira, Souza, Bruno Solano de Freitas
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/34551
Resumo: FAPESB and CAPES.
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spelling Sampaio, Gabriela Louise de AlmeidaMartins, Gabriele Louise SoaresParedes, Bruno DiazNonaka, Carolina Kymie VasquesSilva, Katia Nunes daRossi, Erik AranhaSantos, Ricardo Ribeiro dosSoares, Milena Botelho PereiraSouza, Bruno Solano de Freitas2019-07-31T18:43:00Z2019-07-31T18:43:00Z2019SAMPAIO, Gabriela Louise de Almeida et al. Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency. Stem Cell Research, v. 39, p. 1-5, 2019.1873-5061https://www.arca.fiocruz.br/handle/icict/3455110.1016/j.scr.2019.101488FAPESB and CAPES.São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil.São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil.São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil.Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil.São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.Autism spectrum disorders (ASDs) are a group of diseases that affect social interaction, communication and behavior. Molecular mechanisms involved in the pathogenesis of ASDs are complex due to genetic heterogeneity. Recently, pathogenic variants of SCN2A have been strongly associated with ASDs. Here, we generated iPSCs from a patient with ASD and a heterozygous nonsense mutation in SCN2A, by reprogramming mesenchymal stromal cells with non-integrating vectors. The generated iPSC line expresses pluripotency markers, presents a normal karyotype and is able to differentiate into the three germ layers. This iPSC line is a useful tool for modeling ASD and drug screening studies.engElsevierCélulas-troncoAutismoHaploinsuficiênciaCélulas estromais mesenquimaisHumanosStem CellsAutistic DisorderHaploinsufficiencyMesenchymal Stem CellsHumansGeneration of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiencyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/34551/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALSampaio, G.L. Generation of an induced...2019.pdfSampaio, G.L. Generation of an induced...2019.pdfapplication/pdf1101674https://www.arca.fiocruz.br/bitstream/icict/34551/2/Sampaio%2c%20G.L.%20Generation%20of%20an%20induced...2019.pdfe294eaea091ac63771fb2524f723d249MD52TEXTSampaio, G.L. Generation of an induced...2019.pdf.txtSampaio, G.L. Generation of an induced...2019.pdf.txtExtracted texttext/plain19081https://www.arca.fiocruz.br/bitstream/icict/34551/3/Sampaio%2c%20G.L.%20Generation%20of%20an%20induced...2019.pdf.txt8be11ae54b874f2dc781e5ad0bb4020bMD53icict/345512023-03-15 14:34:16.571oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-03-15T17:34:16Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
title Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
spellingShingle Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
Sampaio, Gabriela Louise de Almeida
Células-tronco
Autismo
Haploinsuficiência
Células estromais mesenquimais
Humanos
Stem Cells
Autistic Disorder
Haploinsufficiency
Mesenchymal Stem Cells
Humans
title_short Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
title_full Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
title_fullStr Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
title_full_unstemmed Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
title_sort Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
author Sampaio, Gabriela Louise de Almeida
author_facet Sampaio, Gabriela Louise de Almeida
Martins, Gabriele Louise Soares
Paredes, Bruno Diaz
Nonaka, Carolina Kymie Vasques
Silva, Katia Nunes da
Rossi, Erik Aranha
Santos, Ricardo Ribeiro dos
Soares, Milena Botelho Pereira
Souza, Bruno Solano de Freitas
author_role author
author2 Martins, Gabriele Louise Soares
Paredes, Bruno Diaz
Nonaka, Carolina Kymie Vasques
Silva, Katia Nunes da
Rossi, Erik Aranha
Santos, Ricardo Ribeiro dos
Soares, Milena Botelho Pereira
Souza, Bruno Solano de Freitas
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Sampaio, Gabriela Louise de Almeida
Martins, Gabriele Louise Soares
Paredes, Bruno Diaz
Nonaka, Carolina Kymie Vasques
Silva, Katia Nunes da
Rossi, Erik Aranha
Santos, Ricardo Ribeiro dos
Soares, Milena Botelho Pereira
Souza, Bruno Solano de Freitas
dc.subject.other.pt_BR.fl_str_mv Células-tronco
Autismo
Haploinsuficiência
Células estromais mesenquimais
Humanos
topic Células-tronco
Autismo
Haploinsuficiência
Células estromais mesenquimais
Humanos
Stem Cells
Autistic Disorder
Haploinsufficiency
Mesenchymal Stem Cells
Humans
dc.subject.en.pt_BR.fl_str_mv Stem Cells
Autistic Disorder
Haploinsufficiency
Mesenchymal Stem Cells
Humans
description FAPESB and CAPES.
publishDate 2019
dc.date.accessioned.fl_str_mv 2019-07-31T18:43:00Z
dc.date.available.fl_str_mv 2019-07-31T18:43:00Z
dc.date.issued.fl_str_mv 2019
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.citation.fl_str_mv SAMPAIO, Gabriela Louise de Almeida et al. Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency. Stem Cell Research, v. 39, p. 1-5, 2019.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/34551
dc.identifier.issn.pt_BR.fl_str_mv 1873-5061
dc.identifier.doi.none.fl_str_mv 10.1016/j.scr.2019.101488
identifier_str_mv SAMPAIO, Gabriela Louise de Almeida et al. Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency. Stem Cell Research, v. 39, p. 1-5, 2019.
1873-5061
10.1016/j.scr.2019.101488
url https://www.arca.fiocruz.br/handle/icict/34551
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/34551/1/license.txt
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repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv repositorio.arca@fiocruz.br
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