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Preliminary characterization of lysosomal-related genes in two tay sachs variant B1 fibroblast cell lines

2021-11Conference object Open access
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dc.contributor.authorRibeiro, Diogo
dc.contributor.authorMarisa, Encarnação
dc.contributor.authorSilva, Lisbeth
dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorAlves, Sandra
dc.contributor.authorAmaral, Olga
dc.date.accessioned2022-07-09T15:14:39Z
dc.date.available2022-07-09T15:14:39Z
dc.date.issued2021-11
dc.description.abstractAim: The present work focus on the NGS characterization of lysosomal-related genes in two skin fibroblast cell lines from TSD variant B1 patients with the mutation p.R178H prior to the manipulations to generate hiPSCs and NPCs. Registering the gene variants at “time zero” will allow the eventual detection of future alterations.pt_PT
dc.description.sponsorshipThis work was financed by FCT (PTDC/BIM-MEC/4762/2014) and INSA-DGH. DR and AJD are PhD candidates at ICBAS-UP.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8132
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectTay Sachs variant B1pt_PT
dc.subjectiPSCpt_PT
dc.subjectCell Modelspt_PT
dc.subjectNGSpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titlePreliminary characterization of lysosomal-related genes in two tay sachs variant B1 fibroblast cell linespt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.citation.conferencePlace(online)pt_PT
oaire.citation.title25th Annual Meeting of the Portuguese Society of Human Genetics, 18-19 Novembro 2021pt_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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