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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 Female Humans Induced Pluripotent Stem Cells Karyotype Kruppel-Like Factor 4 Leukocytes, Mononuclear Mice Mice, Inbred NOD Mice, SCID Mutation Platelet Glycoprotein GPIb-IX Complex Teratoma 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. |
URI: | http://hdl.handle.net/10668/10219 |
metadata.dc.identifier.doi: | 10.1016/j.scr.2016.04.013 |
Appears in Collections: | Producción 2020 |
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