@misc{10481/98869,
year = {2016},
month = {11},
url = {https://hdl.handle.net/10481/98869},
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.},
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},
doi = {10.1016/j.scr.2016.11.012},
author = {López Onieva, Lourdes and Machuca, Candela and Lamolda, Mar and Montes, Rosa and Lozano, María Luisa and Vicente, Vicente and Rivera, José and Ramos Mejía, Verónica and Real Luna, Pedro José},
}