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
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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.Editorial
Elsevier BV
Date
2019-10-15Referencia bibliográfica
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.
Sponsorship
This 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.Abstract
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