Lamolda, MarMontes, RosaSimón, IrisPerales, SoniaMartínez-Navajas, GonzaloLopez-Onieva, LourdesRíos-Pelegrina, RosaDel Moral, Raimundo GarcíaGriñan-Lison, CarmenMarchal, Juan ALozano, Maria LRamos-Mejia, VeronicaRivera, JoseBastida, Jose MReal, Pedro J2023-02-082023-02-082019-10-15http://hdl.handle.net/10668/14652Familial 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.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/Blood Coagulation Disorders, InheritedBlood Platelet DisordersCell DifferentiationCells, CulturedCellular ReprogrammingCore Binding Factor Alpha 2 SubunitFemaleHumansInduced Pluripotent Stem CellsLeukemia, Myeloid, AcuteLeukocytes, MononuclearMiddle AgedMutationresearch article31698193open access10.1016/j.scr.2019.1016031876-7753https://doi.org/10.1016/j.scr.2019.101603