Lopez-Onieva, LourdesMontes, RosaLamolda, MarRomero, TamaraAyllon, VerónicaLozano, Maria LuisaVicente, VicenteRivera, JoséRamos-Mejía, VerónicaReal, Pedro J2023-01-252023-01-252016-04-15http://hdl.handle.net/10668/10219We 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.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/AnimalsBernard-Soulier SyndromeCell DifferentiationCells, CulturedCellular ReprogrammingFemaleHumansInduced Pluripotent Stem CellsKaryotypeKruppel-Like Factor 4Leukocytes, MononuclearMiceMice, Inbred NODMice, SCIDMutationPlatelet Glycoprotein GPIb-IX ComplexTeratomaTranscription Factorsresearch article27346198open access10.1016/j.scr.2016.04.0131876-7753https://doi.org/10.1016/j.scr.2016.04.013