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Lamolda, Mar; Montes, Rosa; Simón, Iris; Perales, Sonia; Martínez-Navajas, Gonzalo; Lopez-Onieva, Lourdes; Ríos-Pelegrina, Rosa; del Moral, Raimundo García; Griñan-Lison, Carmen; Marchal, Juan A.; Lozano, Maria L.; Ramos-Mejia, Veronica; Rivera, Jose; Bastida, Jose M.; Real, Pedro J.
Stem cell research, December 2019, 2019-12-00, 20191201, 2019-12-01, Letnik: 41Journal Article
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.
