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

Bibliographic Details
Main Author: Cristo, Fernando
Publication Date: 2017
Other Authors: 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.
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: https://doi.org/10.1016/j.scr.2017.10.019
Summary: 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
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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 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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2024-05-22T17:29:05Zoai:run.unl.pt:10362/26921Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T17:00:20.570233Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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