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

López Onieva, Lourdes; Machuca, Candela; Lamolda, Mar; Montes, Rosa; Lozano, María Luisa; Vicente, Vicente; Rivera, José; Ramos Mejía, Verónica; Real Luna, Pedro José

doi:10.1016/j.scr.2016.11.012

Lopez-Onieva et al Stem Cell Research 2016 (1).pdf (637.3Kb)

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URI: https://hdl.handle.net/10481/98869

DOI: 10.1016/j.scr.2016.11.012

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2016-11

Referencia bibliográfica

Lopez-Onieva L, Machuca C, Lamolda M, Montes R, Lozano ML, Vicente V, Rivera J, Ramos-Mejía V, Real PJ. 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 Res. 2016 Nov;17(3):603-606. doi: 10.1016/j.scr.2016.11.012. Epub 2016 Nov 8. PMID: 27934591.

Resumen

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 BSS2-PBMC-iPS4F24 included mutational analysis of GPIX locus, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vitro and in vivo differentiation studies. This iPSC line will provide a powerful tool to study the biology of BSS disease.

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