RT Journal Article
T1 Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
A1 Lopez-Onieva, Lourdes
A1 Lamolda, Mar
A1 Montes, Rosa
A1 Lozano, Maria Luisa
A1 Vicente, Vicente
A1 Rivera, José
A1 Ramos-Mejía, Verónica
A1 Real, Pedro J
AB 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 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.
YR 2017
FD 2017-02-11
LK http://hdl.handle.net/10668/11077
UL http://hdl.handle.net/10668/11077
LA en
DS RISalud
RD Mar 12, 2025