Premi a l'excel·lència investigadora. Àmbit de les Ciències de la Salut. 2010

The generation of induced pluripotent stem (iPS) cells by ectopic expression of a defined set of factors1-5 has enabled the derivation of patient-specific pluripotent cells and provided valuable experimental platforms to model human disease6-8. Patientspecific iPS cells are also thought to hold great therapeutic potential, although direct evidence for this is still lacking. Here we show that somatic cells from Fanconi anemia (FA) patients, upon correction of the genetic defect, can be reprogrammed to pluripotency to generate patient-specific iPS cells. These cell lines appear indistinguishable from human embryonic stem cells and iPS cells from healthy individuals in colony morphology, growth properties, expression of pluripotencyassociated transcription factors and surface markers, and differentiation potential in vitro and in vivo. Most importantly, we show that corrected FA-specific iPS cells can give rise to hematopoietic progenitors of the myeloid and erythroid lineages that are phenotypically normal, i.e. disease-free. These data offer proof-f-concept that iPS cell technology can be used for the generation of disease-corrected, patient-specific cells with potential value for cell therapy applications.