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Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.

Stem cell research - 1 Apr 2017

Lopez-Onieva Lourdes, Lamolda Mar, Montes Rosa, Lozano Maria Luisa, Vicente Vicente, Rivera José, Ramos-Mejía Verónica, Real Pedro J

Abstract excerpt

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...

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PMID: 28395735
DOI: 10.1016/j.scr.2017.02.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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