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dc.contributor.authorLamolda, Mar
dc.contributor.authorMontes, Rosa 
dc.contributor.authorSimón, Iris
dc.contributor.authorPerales Romero, Sonia 
dc.contributor.authorMartínez Navajas, Gonzalo
dc.contributor.authorLópez Onieva, Lourdes
dc.contributor.authorRíos Pelegrina, Rosa
dc.contributor.authorGarcía Del Moral Garrido, Raimundo 
dc.contributor.authorGriñán Lisón, Carmen
dc.contributor.authorMarchal Corrales, Juan Antonio 
dc.contributor.authorLozano, María L.
dc.contributor.authorRamos Mejía, Verónica
dc.contributor.authorRivera, José
dc.contributor.authorBastida, José M.
dc.contributor.authorReal, Pedro J.
dc.identifier.citationLamolda, 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.es_ES
dc.description.abstractFamilial 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 patientses_ES
dc.description.sponsorshipThis work was supported by the Ramon y Cajal (RYC-2015-18382) to PJR founded by the Ministry of Economy and Competitiveness; the Instituto de Salud Carlos III-FEDER (CP12/03175 and CPII17/00032) to V.R-M., (PI17/01311) to M.L.L and J.R., (PI17/01966; Fundación Mutua Madrileña AP172142019; Premio Lopez Borrasca SETH 2019; GRS2061/A/19) to J.M.B. and (CPII15/00018 and PI16/01340) to PJR; by the Chair "Doctors Galera-Requena in cancer stem cell research" (CMC-CTS963) to J.A.M. and C.G-L.es_ES
dc.publisherElsevier BVes_ES
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.titleGENYOi005-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 variantes_ES

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Atribución-NoComercial-SinDerivadas 3.0 España
Except where otherwise noted, this item's license is described as Atribución-NoComercial-SinDerivadas 3.0 España