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Gene editing as a tool for developing cell based models of a lysosomal storage disorder: preliminary results

2025-11-28Documento de conferência Acesso aberto
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datacite.subject.fosCiências Médicas::Ciências da Saúde
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorMoreira, Luciana
dc.contributor.authorGaspar, Paulo
dc.contributor.authorAlves, Sandra
dc.contributor.authorBragança, José
dc.contributor.authorAmaral, Olga
dc.date.accessioned2026-03-04T12:21:23Z
dc.date.available2026-03-04T12:21:23Z
dc.date.issued2025-11-28
dc.descriptionPoster Session II: Molecular Biotechnology, Omics & Therapeutic Innovation, P13.
dc.description.abstractIn this work, we aimed to establish a Fabry Disease (FD, OMIM: #301500) disease model using the CRISPR/Cas 9 system by knocking out a HDFa iPSC line. We also aimed to correct a nonsense mutation (p. W 287 X) in the iPSCs derived from a patient with FD. The cell lines used were generated in our laboratory, and the FD iPSC line is registered in the Human Pluripotent Stem Cell Registry with identification "INSAi 002-A". To fully evaluate the molecular and cellular physiological changes, further studies are still required. The development of innovative cell models, particularly for rare diseases like Lysosomal Storage Disorders, is beneficial for studying the pathophysiology of the disease.eng
dc.description.sponsorshipFinanciamento interno institucional (RH e outros apoios: INSA, UP, UAlg) AJD- Bolsa de doutoramento FCT/MEC: SFRH/BD/118009/2016 OA- Projeto FCT/MEC: PTDC/BIM-MEC/4762/2014 Unidade de investigação FCT/MEC: UIDB/00211/2020
dc.identifier.urihttp://hdl.handle.net/10400.18/11104
dc.language.isoeng
dc.peerreviewedyes
dc.relationCenter for the Study of Animal Science
dc.relationPTDC/BIM-MEC/4762/2014
dc.relationFabry disease: from iPS cells to Genomic Editing
dc.relation.hasversionNA
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectGene Editing
dc.subjectDoenças Genéticas
dc.subjectCell Models
dc.subjectiPSCs
dc.subjectFabry Disease
dc.subjectCRISPR/Cas9
dc.subjectGenética Humana
dc.titleGene editing as a tool for developing cell based models of a lysosomal storage disorder: preliminary resultseng
dc.typeconference object
dspace.entity.typePublication
oaire.awardNumberUIDB/00211/2020
oaire.awardNumberPTDC/BIM-MEC/4762/2014
oaire.awardNumberSFRH/BD/118009/2016
oaire.awardTitleCenter for the Study of Animal Science
oaire.awardTitleFabry disease: from iPS cells to Genomic Editing
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00211%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F118009%2F2016/PT
oaire.citation.conferenceDate2025-11-28
oaire.citation.conferencePlacePorto, Portugal
oaire.citation.titleII Thematic Meeting AL4Animals: Comparative and Translational Medicine and Biotechnology, 28 November 2025
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream3599-PPCDT
oaire.versionhttp://purl.org/coar/version/c_ab4af688f83e57aa
project.funder.identifierhttp://doi.org/10.13039/501100001871
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
project.funder.nameFundação para a Ciência e a Tecnologia
relation.isProjectOfPublication69b75eb9-6f25-4ad8-98db-6cc7e9bcdcc7
relation.isProjectOfPublication9452b84c-9691-47bb-82ba-75ed40cdfa04
relation.isProjectOfPublication2d0390cf-01d3-491f-9daf-ceba651b89fe
relation.isProjectOfPublication.latestForDiscovery69b75eb9-6f25-4ad8-98db-6cc7e9bcdcc7

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