%0 Journal Article
%A Lamolda, Mar
%A Montes, Rosa
%A Simón, Iris
%A Perales, Sonia
%A Martínez-Navajas, Gonzalo
%A Lopez-Onieva, Lourdes
%A Ríos-Pelegrina, Rosa
%A Del Moral, Raimundo García
%A Griñan-Lison, Carmen
%A Marchal, Juan A
%A Lozano, Maria L
%A Ramos-Mejia, Veronica
%A Rivera, Jose
%A Bastida, Jose M
%A Real, Pedro J
%T GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant.
%D 2019
%U http://hdl.handle.net/10668/14652
%X Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare platelet disorder caused by mutations in RUNX1. We generated an iPSC line (GENYOi005-A) from a FPDMM patient with a non-previously reported variant p.Thr196Ala. Non-integrative Sendai viruses expressing the Yamanaka reprogramming factors were used to reprogram peripheral blood mononuclear cells from this FPDMM patient. Characterization of GENYOi005-A included genetic analysis of RUNX1 locus, Short Tandem Repeats profiling, alkaline phosphatase enzymatic activity, expression of pluripotency-associated factors and differentiation studies in vitro and in vivo. This iPSC line will provide a powerful tool to study developmental alterations of FPDMM patients.
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