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, de Almeida, Luís Pereira, 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: https://doi.org/10.1016/j.scr.2017.10.019
Resumo: We would like to thank the patient and their guardians for their generous donation of the urine sample used in this study. We also would like to thank Ana Jardimfor technical support in karyotype analysis. This work was supported by Fundacao para a Ciencia e a Tecnologia (PTDC/BIM-MED/3363/2014). iNOVA4Health - UID/Multi/04462/2013, a program financially supported by Fundacao para a Ciencia e Tecnologia/Ministerio da Educacao e Ciencia, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement is acknowledged. Publisher
id RCAP_9506736de144d8a85488051a00537e5f
oai_identifier_str oai:run.unl.pt:10362/26921
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alterationDevelopmental BiologyCell BiologySDG 3 - Good Health and Well-beingWe would like to thank the patient and their guardians for their generous donation of the urine sample used in this study. We also would like to thank Ana Jardimfor technical support in karyotype analysis. This work was supported by Fundacao para a Ciencia e a Tecnologia (PTDC/BIM-MED/3363/2014). iNOVA4Health - UID/Multi/04462/2013, a program financially supported by Fundacao para a Ciencia e Tecnologia/Ministerio da Educacao e Ciencia, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement is acknowledged. PublisherA 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.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)Centro de Estudos de Doenças Crónicas (CEDOC)RUNCristo, FernandoInácio, José M.Rosas, GraçaCarreira, Isabel MarquesMelo, Joana Barbosade Almeida, Luís PereiraMendes, PatríciaMartins, Duarte SaraivaMaio, JoséAnjos, RuiBelo, José A.2017-12-17T23:55:08Z2017-122017-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article5application/pdfhttps://doi.org/10.1016/j.scr.2017.10.019eng1873-5061PURE: 3319096http://www.scopus.com/inward/record.url?scp=85033403571&partnerID=8YFLogxKhttps://doi.org/10.1016/j.scr.2017.10.019info: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:RCAAP2024-03-11T04:14:09Zoai:run.unl.pt:10362/26921Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:28:34.607520Repositório 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
Developmental Biology
Cell Biology
SDG 3 - Good Health and Well-being
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
de Almeida, Luís Pereira
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
de Almeida, Luís Pereira
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.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
Centro de Estudos de Doenças Crónicas (CEDOC)
RUN
dc.contributor.author.fl_str_mv Cristo, Fernando
Inácio, José M.
Rosas, Graça
Carreira, Isabel Marques
Melo, Joana Barbosa
de Almeida, Luís Pereira
Mendes, Patrícia
Martins, Duarte Saraiva
Maio, José
Anjos, Rui
Belo, José A.
dc.subject.por.fl_str_mv Developmental Biology
Cell Biology
SDG 3 - Good Health and Well-being
topic Developmental Biology
Cell Biology
SDG 3 - Good Health and Well-being
description We would like to thank the patient and their guardians for their generous donation of the urine sample used in this study. We also would like to thank Ana Jardimfor technical support in karyotype analysis. This work was supported by Fundacao para a Ciencia e a Tecnologia (PTDC/BIM-MED/3363/2014). iNOVA4Health - UID/Multi/04462/2013, a program financially supported by Fundacao para a Ciencia e Tecnologia/Ministerio da Educacao e Ciencia, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement is acknowledged. Publisher
publishDate 2017
dc.date.none.fl_str_mv 2017-12-17T23:55:08Z
2017-12
2017-12-01T00:00:00Z
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 https://doi.org/10.1016/j.scr.2017.10.019
url 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 1873-5061
PURE: 3319096
http://www.scopus.com/inward/record.url?scp=85033403571&partnerID=8YFLogxK
https://doi.org/10.1016/j.scr.2017.10.019
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 5
application/pdf
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
_version_ 1799137911158865920

Registros relacionados