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A first step to open the neuronal box of Gaucher Cells

2020-11-20Conference object Open access
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dc.contributor.authorRibeiro, Diogo
dc.contributor.authorDuarte, Ana
dc.contributor.authorSantos, Renato
dc.contributor.authorAmaral, Olga
dc.date.accessioned2021-03-13T17:15:18Z
dc.date.available2021-03-13T17:15:18Z
dc.date.issued2020-11-20
dc.descriptionAbstract publicado em: https://cms.cloudguideapp.com/v2/backend/uploads/documents/689_abstract-b_31238917.pdfpt_PT
dc.description.abstractThis work focuses on the differentiation and gene expression characterization of neural progenitor cells obtained from human induced pluripotent cells (hiPSCs) reprogrammed from type 3 GD (GD3) fibroblasts. GD3 patient fibroblasts (from an international cell bank) were cultured and reprogramed as previously described (https://doi.org/10.1016/j.scr.2019.101595). The resulting hiPSCs were differentiated into pre-neuronal cells and, at this stage, they were examined. The gene expression behavior of all neurogenesis genes (NES, MAP2 and OTX2) was similar but higher expression was observed in GD3 hiPSCs than in GD3 neural progenitor cells. With this work, we can conclude that, when working with hiPSCs in the process of creating disease-specific cell models it is most important to carry out a general gene expression characterization of the different cell lines involved in all stages.pt_PT
dc.description.sponsorshipThis work was financed by FCT (PTDC/BIM-MEC/4762/2014) and INSA-DGH. Is also part of the PhD project of DR.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/7469
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectTay Sachs diseasept_PT
dc.subjectinduced Pluripotent Stem Cellspt_PT
dc.subjectNeurodegenerative Diseasept_PT
dc.subjectLysosomal Disorderspt_PT
dc.subjectModelos Celularespt_PT
dc.subjectGene Expressionpt_PT
dc.subjectGaucher Disease type 3pt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleA first step to open the neuronal box of Gaucher Cellspt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.citation.conferencePlaceLisboa, Portugal (online)pt_PT
oaire.citation.title24ª Reunião Científica da Sociedade Portuguesa de Genética Humana, 20 novembro 2020pt_PT
oaire.fundingStream3599-PPCDT
person.familyNameRibeiro
person.familyNameBorges Duarte
person.familyNameAmaral
person.givenNameDiogo
person.givenNameAna Joana
person.givenNameOlga
person.identifier.ciencia-idF713-02C6-1A87
person.identifier.ciencia-id4F11-0EFD-0103
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0002-4681-0354
person.identifier.orcid0000-0002-6774-4886
person.identifier.orcid0000-0002-3478-2122
person.identifier.scopus-author-id7004054964
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
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