@misc{10481/98864,
year = {2016},
month = {5},
url = {https://hdl.handle.net/10481/98864},
abstract = {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.},
title = {Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene},
doi = {10.1016/j.scr.2016.07.008},
author = {López Onieva, Lourdes and Montes, Rosa and Lamolda, Mar and Romero, Tamara and Ayllon, Verónica and Lozano, María Luisa and Vicente, Vicente and Rivera, José and Ramos Mejía, Verónica and Real Luna, Pedro José},
}