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
oleh: Mar Lamolda, Rosa Montes, Iris Simón, Sonia Perales, Gonzalo Martínez-Navajas, Lourdes Lopez-Onieva, Rosa Ríos-Pelegrina, Raimundo García del Moral, Carmen Griñan-Lison, Juan A. Marchal, Maria L. Lozano, Veronica Ramos-Mejia, Jose Rivera, Jose M. Bastida, Pedro J. Real
| Format: | Article |
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| Diterbitkan: | Elsevier 2019-12-01 |
Deskripsi
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.