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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Lamolda M, Montes R, Simón I, Perales S, Martínez-Navajas G, Lopez-Onieva L, Ríos-Pelegrina R, Del Moral RG, Griñan-Lison C, Marchal JA, Lozano ML, Ramos-Mejia V, Rivera J, Bastida JM, Real PJ
Journal Stem cell research
Publication Date 2019 Dec;41:101603
PubMed 31698193
DOI 10.1016/j.scr.2019.101603

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