| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 41, Iss , Pp - (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2019.101603 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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