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Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation

2020-05Journal article Open access
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dc.contributor.authorDuarte, Ana
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorSantos, Renato
dc.contributor.authorMoreira, Luciana
dc.contributor.authorBragança, José
dc.contributor.authorAmaral, Olga
dc.date.accessioned2021-03-09T18:04:32Z
dc.date.available2021-03-09T18:04:32Z
dc.date.issued2020-05
dc.descriptionO trabalho foi desenvolvido no DGH do INSA em colaboração com participantes do DGH do Porto e de Lisboa ao abrigo do projeto PTDC/BIM-MEC/4762/2014.pt_PT
dc.description.abstractFabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-linked disease, males are primarily affected. This work describes the generation of induced Pluripotent Stem Cells (iPSCs) from skin fibroblasts from a FD patient, using non-integrative episomal vectors. Differentiation of iPSCs can be applied to generate a variety of cell types with high degree of genetic complexity that would otherwise be difficult to obtain.pt_PT
dc.description.sponsorshipPortuguese Foundation of Science and Technology (FCT) project PTDC/BIM-MEC/4762/2014 (PI-O.A.) and UIDB/00211/2020. R.S. was the recipient of an FCT Grant from project PTDC/BIM-MEC/4762/2014 (MCTES).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationStem Cell Res. 2020 May;45:101794. doi: 10.1016/j.scr.2020.101794. Epub 2020 Apr 20.pt_PT
dc.identifier.doi10.1016/j.scr.2020.101794pt_PT
dc.identifier.issn1873-5061
dc.identifier.urihttp://hdl.handle.net/10400.18/7382
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationCenter for the Study of Animal Science
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S1873506120300970pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectFabry Diseasept_PT
dc.subjectInduced Pluripotent Stem Cellspt_PT
dc.subjectCell Modelspt_PT
dc.subjectLysosomal Disorderspt_PT
dc.subjectBiologia Molecular e Celularpt_PT
dc.subjectModelos Celularespt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenétca Humanapt_PT
dc.titleInduced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleCenter for the Study of Animal Science
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00211%2F2020/PT
oaire.citation.conferencePlaceNetherlandspt_PT
oaire.citation.startPage101794pt_PT
oaire.citation.titleStem Cell Researchpt_PT
oaire.citation.volume45pt_PT
oaire.fundingStream3599-PPCDT
oaire.fundingStream6817 - DCRRNI ID
person.familyNameBorges Duarte
person.familyNameRibeiro
person.familyNameBragança
person.familyNameAmaral
person.givenNameAna Joana
person.givenNameDiogo
person.givenNameJosé
person.givenNameOlga
person.identifier.ciencia-id4F11-0EFD-0103
person.identifier.ciencia-idF713-02C6-1A87
person.identifier.ciencia-idAC1D-FA9D-F66F
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0002-6774-4886
person.identifier.orcid0000-0002-4681-0354
person.identifier.orcid0000-0001-9566-400X
person.identifier.orcid0000-0002-3478-2122
person.identifier.scopus-author-id6602220001
person.identifier.scopus-author-id7004054964
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com página web do editor da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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