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Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

2019Journal article Open access
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dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorSantos, Renato
dc.contributor.authorMoreira, Luciana
dc.contributor.authorBragança, José
dc.contributor.authorAmaral, Olga
dc.date.accessioned2020-02-14T18:25:03Z
dc.date.available2020-02-14T18:25:03Z
dc.date.issued2019
dc.description.abstractGaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases. Causal mutations in the glucocerebrosidase 1 (GBA1) commonly lead to abnormal protein and GD, heterozygosity is a genetic risk factor for Parkinson's disease. This work describes the use of a non-integrative approach using Sendai Virus delivery to establish induced Pluripotent Stem Cells (iPSCs) from fibroblasts from a GD type 3 patient. Differentiation of iPSCs can be employed to generate a variety of complex cell types with a high degree of genetic complexity that would otherwise be unattainable.pt_PT
dc.description.sponsorshipFunding Agency Portuguese Foundation for Science and Technology PTDC/BIM-MEC/4762/2014pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doihttps://doi.org/10.1016/j.scr.2019.101595pt_PT
dc.identifier.issn1873-5061
dc.identifier.urihttp://hdl.handle.net/10400.1/13513
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectLysosomal glucocerebrosidasept_PT
dc.subjectInduced pluripotent stem cells (iPSCs)pt_PT
dc.subjectCell modelspt_PT
dc.subjectDisease modellingpt_PT
dc.subjectSendai viruspt_PT
dc.subjectFeeder-free culturept_PT
dc.subjectNon-integrative vectorpt_PT
dc.subjectGaucher type 3pt_PT
dc.titleInduced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 genept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.citation.startPage101595pt_PT
oaire.citation.titleStem Cell Researchpt_PT
oaire.citation.volume41pt_PT
oaire.fundingStream3599-PPCDT
person.familyNameBragança
person.givenNameJosé
person.identifier.ciencia-idAC1D-FA9D-F66F
person.identifier.orcid0000-0001-9566-400X
person.identifier.scopus-author-id6602220001
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication27334e02-e955-4939-b9b5-bdee5b5f9328
relation.isAuthorOfPublication.latestForDiscovery27334e02-e955-4939-b9b5-bdee5b5f9328
relation.isProjectOfPublicatione4124e76-6fed-441a-ace5-75cc4b49895a
relation.isProjectOfPublication.latestForDiscoverye4124e76-6fed-441a-ace5-75cc4b49895a

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