RT Journal Article
T1 Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene.
A1 Lopez-Onieva, Lourdes
A1 Montes, Rosa
A1 Lamolda, Mar
A1 Romero, Tamara
A1 Ayllon, Verónica
A1 Lozano, Maria Luisa
A1 Vicente, Vicente
A1 Rivera, José
A1 Ramos-Mejía, Verónica
A1 Real, Pedro J
AB 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.
YR 2016
FD 2016-04-15
LK http://hdl.handle.net/10668/10219
UL http://hdl.handle.net/10668/10219
LA en
DS RISalud
RD Apr 5, 2025