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.authorLopez-Onieva, Lourdes
dc.contributor.authorLamolda, Mar
dc.contributor.authorMontes, Rosa
dc.contributor.authorLozano, Maria Luisa
dc.contributor.authorVicente, Vicente
dc.contributor.authorRivera, José
dc.contributor.authorRamos-Mejía, Verónica
dc.contributor.authorReal, Pedro J
dc.date.accessioned2023-01-25T09:44:55Z
dc.date.available2023-01-25T09:44:55Z
dc.date.issued2017-02-11
dc.description.abstractBernard 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.doi10.1016/j.scr.2017.02.001
dc.identifier.essn1876-7753
dc.identifier.pmid28395735
dc.identifier.unpaywallURLhttps://doi.org/10.1016/j.scr.2017.02.001
dc.identifier.urihttp://hdl.handle.net/10668/11077
dc.journal.titleStem cell research
dc.journal.titleabbreviationStem Cell Res
dc.language.isoen
dc.organizationCentro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica-GENYO
dc.page.number10-13
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.meshBase Sequence
dc.subject.meshBernard-Soulier Syndrome
dc.subject.meshCell Differentiation
dc.subject.meshCell Line
dc.subject.meshCellular Reprogramming
dc.subject.meshDNA Mutational Analysis
dc.subject.meshEmbryoid Bodies
dc.subject.meshFemale
dc.subject.meshHomozygote
dc.subject.meshHumans
dc.subject.meshInduced Pluripotent Stem Cells
dc.subject.meshKaryotype
dc.subject.meshLeukocytes, Mononuclear
dc.subject.meshPlatelet Glycoprotein GPIb-IX Complex
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshTandem Repeat Sequences
dc.subject.meshTranscription Factors
dc.titleInduced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number20
dspace.entity.typePublication

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