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Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene.

Stem cell research - 1 Nov 2016

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

Abstract excerpt

Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). Peripheral blood mononuclear cells were reprogrammed using non-integrative viral transduction. Characterization of...

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PMID: 27934591
DOI: 10.1016/j.scr.2016.11.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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