Publication
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation
| dc.contributor.author | Duarte, Ana Joana | |
| dc.contributor.author | Ribeiro, Diogo | |
| dc.contributor.author | Santos, Renato | |
| dc.contributor.author | Moreira, Luciana | |
| dc.contributor.author | Bragança, José | |
| dc.contributor.author | Amaral, Olga | |
| dc.date.accessioned | 2020-09-03T09:18:43Z | |
| dc.date.available | 2020-09-03T09:18:43Z | |
| dc.date.issued | 2020 | |
| dc.description.abstract | Fabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-linked disease, males are primarily affected. This work describes the generation of induced Pluripotent Stem Cells (iPSCs) from skin fibroblasts from a FD patient, using non-integrative episomal vectors. Differentiation of iPSCs can be applied to generate a variety of cell types with high degree of genetic complexity that would otherwise be difficult to obtain. | pt_PT |
| dc.description.sponsorship | FCT: PTDC/BIM-MEC/4762/2014 (PI-O.A.)/ UIDB/00211/2020/ PTDC/BIM-MEC/4762/2014. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.doi | 10.1016/j.scr.2020.101794 | pt_PT |
| dc.identifier.issn | 1873-5061 | |
| dc.identifier.uri | http://hdl.handle.net/10400.1/14676 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Elsevier | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt_PT |
| dc.title | Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.startPage | 101794 | pt_PT |
| oaire.citation.title | Stem Cell Research | pt_PT |
| oaire.citation.volume | 45 | pt_PT |
| person.familyName | Bragança | |
| person.givenName | José | |
| person.identifier.ciencia-id | AC1D-FA9D-F66F | |
| person.identifier.orcid | 0000-0001-9566-400X | |
| person.identifier.scopus-author-id | 6602220001 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isAuthorOfPublication | 27334e02-e955-4939-b9b5-bdee5b5f9328 | |
| relation.isAuthorOfPublication.latestForDiscovery | 27334e02-e955-4939-b9b5-bdee5b5f9328 |
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