Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

Detalhes bibliográficos
Autor(a) principal: Cristo, Fernando
Data de Publicação: 2017
Outros Autores: Inácio, José M, Rosas, Graça, Carreira, Isabel Marques, Melo, Joana Barbosa, Almeida, Luís Pereira de, Mendes, Patrícia, Martins, Duarte Saraiva, Maio, José, Anjos, Rui, Belo, José A.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10316/102116
https://doi.org/10.1016/j.scr.2017.10.019
Resumo: A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.
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spelling Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alterationCell DifferentiationCell LineCellular ReprogrammingChildEmbryoid BodiesHeart Defects, CongenitalHumansInduced Pluripotent Stem CellsIntercellular Signaling Peptides and ProteinsKaryotypeMaleMutation, MissenseA human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.2017info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/102116http://hdl.handle.net/10316/102116https://doi.org/10.1016/j.scr.2017.10.019eng18735061Cristo, FernandoInácio, José MRosas, GraçaCarreira, Isabel MarquesMelo, Joana BarbosaAlmeida, Luís Pereira deMendes, PatríciaMartins, Duarte SaraivaMaio, JoséAnjos, RuiBelo, José A.info: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:RCAAP2022-09-26T21:22:40Zoai:estudogeral.uc.pt:10316/102116Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:19:10.676642Repositório 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 human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
title Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
spellingShingle Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
Cristo, Fernando
Cell Differentiation
Cell Line
Cellular Reprogramming
Child
Embryoid Bodies
Heart Defects, Congenital
Humans
Induced Pluripotent Stem Cells
Intercellular Signaling Peptides and Proteins
Karyotype
Male
Mutation, Missense
title_short Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
title_full Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
title_fullStr Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
title_full_unstemmed Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
title_sort Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
author Cristo, Fernando
author_facet Cristo, Fernando
Inácio, José M
Rosas, Graça
Carreira, Isabel Marques
Melo, Joana Barbosa
Almeida, Luís Pereira de
Mendes, Patrícia
Martins, Duarte Saraiva
Maio, José
Anjos, Rui
Belo, José A.
author_role author
author2 Inácio, José M
Rosas, Graça
Carreira, Isabel Marques
Melo, Joana Barbosa
Almeida, Luís Pereira de
Mendes, Patrícia
Martins, Duarte Saraiva
Maio, José
Anjos, Rui
Belo, José A.
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Cristo, Fernando
Inácio, José M
Rosas, Graça
Carreira, Isabel Marques
Melo, Joana Barbosa
Almeida, Luís Pereira de
Mendes, Patrícia
Martins, Duarte Saraiva
Maio, José
Anjos, Rui
Belo, José A.
dc.subject.por.fl_str_mv Cell Differentiation
Cell Line
Cellular Reprogramming
Child
Embryoid Bodies
Heart Defects, Congenital
Humans
Induced Pluripotent Stem Cells
Intercellular Signaling Peptides and Proteins
Karyotype
Male
Mutation, Missense
topic Cell Differentiation
Cell Line
Cellular Reprogramming
Child
Embryoid Bodies
Heart Defects, Congenital
Humans
Induced Pluripotent Stem Cells
Intercellular Signaling Peptides and Proteins
Karyotype
Male
Mutation, Missense
description A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.
publishDate 2017
dc.date.none.fl_str_mv 2017
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/10316/102116
http://hdl.handle.net/10316/102116
https://doi.org/10.1016/j.scr.2017.10.019
url http://hdl.handle.net/10316/102116
https://doi.org/10.1016/j.scr.2017.10.019
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 18735061
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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
repository.mail.fl_str_mv
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