RT Journal Article
T1 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.
A1 Lamolda, Mar
A1 Montes, Rosa
A1 Simón, Iris
A1 Perales, Sonia
A1 Martínez-Navajas, Gonzalo
A1 Lopez-Onieva, Lourdes
A1 Ríos-Pelegrina, Rosa
A1 Del Moral, Raimundo García
A1 Griñan-Lison, Carmen
A1 Marchal, Juan A
A1 Lozano, Maria L
A1 Ramos-Mejia, Veronica
A1 Rivera, Jose
A1 Bastida, Jose M
A1 Real, Pedro J
AB 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.
YR 2019
FD 2019-10-15
LK http://hdl.handle.net/10668/14652
UL http://hdl.handle.net/10668/14652
LA en
DS RISalud
RD Apr 8, 2025