Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene

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

doi:10.1016/j.scr.2016.07.008

Lopez-Onieva et al Stem Cell Research 2016.pdf (849.8Kb)

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URI: https://hdl.handle.net/10481/98864

DOI: 10.1016/j.scr.2016.07.008

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2016-05

Referencia bibliográfica

Lopez-Onieva L, Montes R, Lamolda M, Romero T, Ayllon V, Lozano ML, Vicente V, Rivera J, Ramos-Mejía V, Real PJ. Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene. Stem Cell Res. 2016 May;16(3):692-5. doi: 10.1016/j.scr.2016.04.013. Epub 2016 Apr 15. Erratum in: Stem Cell Res. 2016 Sep;17(2):462. doi: 10.1016/j.scr.2016.07.008. PMID: 27346198.

Resumen

We generated an induced pluripotent stem cell (iPSC) line from a Bernard-Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing the reprogramming factors Oct3/4, SOX2, KLF4 and c-MYC. Successful silencing of the exogenous reprogramming factors was checked by RT-PCR. Characterization of BSS1-PBMC-iPS4F4 included mutation analysis of GPIX locus, Short Tandem Repeats (STR) profiling, alkaline phosphatase enzymatic activity, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vivo differentiation studies. BSS1-PBMC-iPS4F4 will provide a powerful tool to study BSS.

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DBBM1 - Artículos

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