Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.

Detalhes bibliográficos
Autor(a) principal: Inácio, José M.
Data de Publicação: 2020
Outros Autores: Almeida, Micael, Cristo, Fernando, 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/10362/90668
Resumo: This work was supported by Fundação para a Ciência e a Tecnologia (PTDC/ BIM-MED/3363/2014) and iNOVA4Health -UID/Multi/04462/ 2013, a program financially supported by Fundação para a Ciência e Tecnologia/ Ministério da Educação e Ciência, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement.
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spelling Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.Developmental BiologyCell BiologySDG 3 - Good Health and Well-beingThis work was supported by Fundação para a Ciência e a Tecnologia (PTDC/ BIM-MED/3363/2014) and iNOVA4Health -UID/Multi/04462/ 2013, a program financially supported by Fundação para a Ciência e Tecnologia/ Ministério da Educação e Ciência, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement.Human induced pluripotent stem cells (hiPSCs) from individual patient basis are considered a powerful resource to model human diseases. However, to study complex multigenic diseases such as Congenital Heart Disease, it is crucial to generate perfect isogenic controls to understand gene singularity and contribution. Here, we report the engendering of an isogenic hiPSC line with homozygous correction of c.455G > A alteration in the DAND5 gene, using CRISPR/Cas9 technology. The characterization of a clone of this cell line demonstrates normal karyotype, pluripotent state, and potential to differentiate in vitro towards endoderm, mesoderm, and ectoderm.Centro de Estudos de Doenças Crónicas (CEDOC)NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNInácio, José M.Almeida, MicaelCristo, FernandoBelo, José A.2020-01-03T23:43:14Z2020-012020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/90668eng1873-5061PURE: 16160870https://doi.org/10.1016/j.scr.2019.101677info: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:RCAAP2024-03-11T04:40:14Zoai:run.unl.pt:10362/90668Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:37:09.316419Repositório 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 a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
title Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
spellingShingle Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
Inácio, José M.
Developmental Biology
Cell Biology
SDG 3 - Good Health and Well-being
title_short Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
title_full Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
title_fullStr Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
title_full_unstemmed Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
title_sort Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
author Inácio, José M.
author_facet Inácio, José M.
Almeida, Micael
Cristo, Fernando
Belo, José A.
author_role author
author2 Almeida, Micael
Cristo, Fernando
Belo, José A.
author2_role author
author
author
dc.contributor.none.fl_str_mv Centro de Estudos de Doenças Crónicas (CEDOC)
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Inácio, José M.
Almeida, Micael
Cristo, Fernando
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 This work was supported by Fundação para a Ciência e a Tecnologia (PTDC/ BIM-MED/3363/2014) and iNOVA4Health -UID/Multi/04462/ 2013, a program financially supported by Fundação para a Ciência e Tecnologia/ Ministério da Educação e Ciência, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement.
publishDate 2020
dc.date.none.fl_str_mv 2020-01-03T23:43:14Z
2020-01
2020-01-01T00:00:00Z
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/10362/90668
url http://hdl.handle.net/10362/90668
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1873-5061
PURE: 16160870
https://doi.org/10.1016/j.scr.2019.101677
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.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
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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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