Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene López Onieva, Lourdes Montes, Rosa Lamolda, Mar Romero, Tamara Ayllon, Verónica Lozano, María Luisa Vicente, Vicente Rivera, José Ramos Mejía, Verónica Real Luna, Pedro José We generated an induced pluripotent stem cell (iPSC) line from a Bernard-Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing the reprogramming factors Oct3/4, SOX2, KLF4 and c-MYC. Successful silencing of the exogenous reprogramming factors was checked by RT-PCR. Characterization of BSS1-PBMC-iPS4F4 included mutation analysis of GPIX locus, Short Tandem Repeats (STR) profiling, alkaline phosphatase enzymatic activity, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vivo differentiation studies. BSS1-PBMC-iPS4F4 will provide a powerful tool to study BSS. 2025-01-10T11:41:21Z 2025-01-10T11:41:21Z 2016-05 journal article Lopez-Onieva L, Montes R, Lamolda M, Romero T, Ayllon V, Lozano ML, Vicente V, Rivera J, Ramos-Mejía V, Real PJ. Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene. Stem Cell Res. 2016 May;16(3):692-5. doi: 10.1016/j.scr.2016.04.013. Epub 2016 Apr 15. Erratum in: Stem Cell Res. 2016 Sep;17(2):462. doi: 10.1016/j.scr.2016.07.008. PMID: 27346198. https://hdl.handle.net/10481/98864 10.1016/j.scr.2016.07.008 eng http://creativecommons.org/licenses/by-nc-nd/4.0/ open access Attribution-NonCommercial-NoDerivatives 4.0 Internacional