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Title: Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene.
Authors: Lopez-Onieva, Lourdes
Montes, Rosa
Lamolda, Mar
Romero, Tamara
Ayllon, Verónica
Lozano, Maria Luisa
Vicente, Vicente
Rivera, José
Ramos-Mejía, Verónica
Real, Pedro J
metadata.dc.subject.mesh: Animals
Bernard-Soulier Syndrome
Cell Differentiation
Cells, Cultured
Cellular Reprogramming
Induced Pluripotent Stem Cells
Kruppel-Like Factor 4
Leukocytes, Mononuclear
Mice, Inbred NOD
Mice, SCID
Platelet Glycoprotein GPIb-IX Complex
Transcription Factors
Issue Date: 15-Apr-2016
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.
metadata.dc.identifier.doi: 10.1016/j.scr.2016.04.013
Appears in Collections:Producción 2020

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