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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

2019-10-18Journal 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.accessioned2020-04-27T07:36:14Z
dc.date.available2020-04-27T07:36:14Z
dc.date.issued2019-10-18
dc.descriptionThe authors thank Hildeberto Correia (Department of Human Genetics in Lisbon), for the karyotype analysis; José Ferrão (Department of Human Genetics in Lisbon), for the STR analysis; the collaboration of the central core services of Department of Human Genetics in Lisbon is acknowledge as well as Meghan Quint for assistance with English language.pt_PT
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.sponsorshipThis work was carried out at the Department of Human Genetics of INSA; financial support was received exclusively from the Portuguese Foundation of Science and Technology(FCT) project PTDC/BIM-MEC/4762/2014 (PI-O.A.) and R.S. is 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. 2019 Dec;41:101595. doi: 10.1016/j.scr.2019.101595. Epub 2019 Oct 18pt_PT
dc.identifier.doi10.1016/j.scr.2019.101595pt_PT
dc.identifier.issn1873-5061
dc.identifier.urihttp://hdl.handle.net/10400.18/6527
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S1873506119302259?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectGaucher Diseasept_PT
dc.subjectInduced Pluripotent cellspt_PT
dc.subjectCell modelspt_PT
dc.subjectGaucher type 3pt_PT
dc.subjectINSAi001-Apt_PT
dc.subjectDisease Modellingpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenética Humanapt_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.citation.startPage101595pt_PT
oaire.citation.titleStem Cell Researchpt_PT
oaire.citation.volume41pt_PT
person.familyNameBragança
person.familyNameAmaral
person.givenNameJosé
person.givenNameOlga
person.identifier.ciencia-idAC1D-FA9D-F66F
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0001-9566-400X
person.identifier.orcid0000-0002-3478-2122
person.identifier.scopus-author-id6602220001
person.identifier.scopus-author-id7004054964
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication19dfd8e1-94b8-42b3-a811-f3e61540775c
relation.isAuthorOfPublication8c7fb04a-80c0-4dd7-b3c5-682f6d25662b
relation.isAuthorOfPublication.latestForDiscovery8c7fb04a-80c0-4dd7-b3c5-682f6d25662b

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