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dc.contributor.authorLópez Onieva, Lourdes 
dc.contributor.authorMachuca, Candela
dc.contributor.authorLamolda, Mar
dc.contributor.authorMontes, Rosa
dc.contributor.authorLozano, María Luisa
dc.contributor.authorVicente, Vicente
dc.contributor.authorRivera, José
dc.contributor.authorRamos Mejía, Verónica
dc.contributor.authorReal Luna, Pedro José 
dc.date.accessioned2025-01-10T12:01:28Z
dc.date.available2025-01-10T12:01:28Z
dc.date.issued2016-11
dc.identifier.citationLopez-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.urihttps://hdl.handle.net/10481/98869
dc.description.abstractBernard 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.isoenges_ES
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.titleGeneration of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX genees_ES
dc.typejournal articlees_ES
dc.rights.accessRightsopen accesses_ES
dc.identifier.doi10.1016/j.scr.2016.11.012


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