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 Lamolda, Mar Montes, Rosa Simón, Iris Perales Romero, Sonia Martínez Navajas, Gonzalo López Onieva, Lourdes Ríos Pelegrina, Rosa María García Del Moral Garrido, Raimundo Griñán Lisón, Carmen Marchal Corrales, Juan Antonio Lozano, María L. Ramos Mejía, Verónica Rivera, José Bastida, José M. Real, Pedro J. 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 2020-01-24T08:57:51Z 2020-01-24T08:57:51Z 2019-10-15 info:eu-repo/semantics/article Lamolda, M., Montes, R., Simón, I., Perales, S., Martínez-Navajas, G., Lopez-Onieva, L., ... & Lozano, M. L. (2019). 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. Stem cell research, 41, 101603. http://hdl.handle.net/10481/59102 10.1016/j.scr.2019.101603 eng http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/openAccess Atribución-NoComercial-SinDerivadas 3.0 España Elsevier BV