@misc{10481/59102,
year = {2019},
month = {10},
url = {http://hdl.handle.net/10481/59102},
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},
organization = {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.},
publisher = {Elsevier BV},
title = {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},
doi = {10.1016/j.scr.2019.101603},
author = {Lamolda, Mar and Montes, Rosa and Simón, Iris and Perales Romero, Sonia and Martínez Navajas, Gonzalo and López Onieva, Lourdes and Ríos Pelegrina, Rosa María and García Del Moral Garrido, Raimundo and Griñán Lisón, Carmen and Marchal Corrales, Juan Antonio and Lozano, María L. and Ramos Mejía, Verónica and Rivera, José and Bastida, José M. and Real, Pedro J.},
}