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 López Onieva, Lourdes Machuca, Candela Lamolda, Mar Montes, Rosa Lozano, María Luisa Vicente, Vicente Rivera, José Ramos Mejía, Verónica Real Luna, Pedro José 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. 2025-01-10T12:01:28Z 2025-01-10T12:01:28Z 2016-11 journal article 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. https://hdl.handle.net/10481/98869 10.1016/j.scr.2016.11.012 eng http://creativecommons.org/licenses/by-nc-nd/4.0/ open access Attribution-NonCommercial-NoDerivatives 4.0 Internacional