dc.contributor.author | López Onieva, Lourdes | |
dc.contributor.author | Machuca, Candela | |
dc.contributor.author | Lamolda, Mar | |
dc.contributor.author | Montes, Rosa | |
dc.contributor.author | Lozano, María Luisa | |
dc.contributor.author | Vicente, Vicente | |
dc.contributor.author | Rivera, José | |
dc.contributor.author | Ramos Mejía, Verónica | |
dc.contributor.author | Real Luna, Pedro José | |
dc.date.accessioned | 2025-01-10T12:01:28Z | |
dc.date.available | 2025-01-10T12:01:28Z | |
dc.date.issued | 2016-11 | |
dc.identifier.citation | Lopez-Onieva L, Machuca C, Lamolda M, Montes R, Lozano ML, Vicente V, Rivera J, Ramos-Mejía V, Real PJ. Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene. Stem Cell Res. 2016 Nov;17(3):603-606. doi: 10.1016/j.scr.2016.11.012. Epub 2016 Nov 8. PMID: 27934591. | es_ES |
dc.identifier.uri | https://hdl.handle.net/10481/98869 | |
dc.description.abstract | Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). Peripheral blood mononuclear cells were reprogrammed using non-integrative viral transduction. Characterization of BSS2-PBMC-iPS4F24 included mutational analysis of GPIX locus, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vitro and in vivo differentiation studies. This iPSC line will provide a powerful tool to study the biology of BSS disease. | es_ES |
dc.language.iso | eng | es_ES |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.title | Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene | es_ES |
dc.type | journal article | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.identifier.doi | 10.1016/j.scr.2016.11.012 | |