Publication: Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
dc.contributor.author | Lopez-Onieva, Lourdes | |
dc.contributor.author | Lamolda, Mar | |
dc.contributor.author | Montes, Rosa | |
dc.contributor.author | Lozano, Maria Luisa | |
dc.contributor.author | Vicente, Vicente | |
dc.contributor.author | Rivera, José | |
dc.contributor.author | Ramos-Mejía, Verónica | |
dc.contributor.author | Real, Pedro J | |
dc.date.accessioned | 2023-01-25T09:44:55Z | |
dc.date.available | 2023-01-25T09:44:55Z | |
dc.date.issued | 2017-02-11 | |
dc.description.abstract | Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX. In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from peripheral blood mononuclear cells of a BSS patient with a p.Phe55Ser mutation in the GPIX gene. Characterization of BSS3-PBMC-iPS4F8 showed that these cells maintained the original mutation present in the BSS patient, expressed pluripotent stem cell markers and were able to differentiate into the three germline layers. This new iPSC line will contribute to better understand the biology of BSS disease. | |
dc.identifier.doi | 10.1016/j.scr.2017.02.001 | |
dc.identifier.essn | 1876-7753 | |
dc.identifier.pmid | 28395735 | |
dc.identifier.unpaywallURL | https://doi.org/10.1016/j.scr.2017.02.001 | |
dc.identifier.uri | http://hdl.handle.net/10668/11077 | |
dc.journal.title | Stem cell research | |
dc.journal.titleabbreviation | Stem Cell Res | |
dc.language.iso | en | |
dc.organization | Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica-GENYO | |
dc.page.number | 10-13 | |
dc.pubmedtype | Journal Article | |
dc.pubmedtype | Research Support, Non-U.S. Gov't | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights.accessRights | open access | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.subject.mesh | Base Sequence | |
dc.subject.mesh | Bernard-Soulier Syndrome | |
dc.subject.mesh | Cell Differentiation | |
dc.subject.mesh | Cell Line | |
dc.subject.mesh | Cellular Reprogramming | |
dc.subject.mesh | DNA Mutational Analysis | |
dc.subject.mesh | Embryoid Bodies | |
dc.subject.mesh | Female | |
dc.subject.mesh | Homozygote | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Induced Pluripotent Stem Cells | |
dc.subject.mesh | Karyotype | |
dc.subject.mesh | Leukocytes, Mononuclear | |
dc.subject.mesh | Platelet Glycoprotein GPIb-IX Complex | |
dc.subject.mesh | Polymorphism, Single Nucleotide | |
dc.subject.mesh | Tandem Repeat Sequences | |
dc.subject.mesh | Transcription Factors | |
dc.title | Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene. | |
dc.type | research article | |
dc.type.hasVersion | VoR | |
dc.volume.number | 20 | |
dspace.entity.type | Publication |