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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvat...

Garate, Z; Quintana-Bustamante, O; Crane, AM; Olivier, E; Poirot, L; Galetto, R; Kosinski, P; Hill, C; Kung, C; Agirre, X; Orman, I; Cerrato, L

Pyruvate kinase deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene. Erythrocytes from PKD patients show an energetic imbalance causing chronic non-spherocytic hemolytic anemia, as pyruvate kinase defects impair ATP production in erythrocytes. We generated PKD induced pluripotent stem cells (PKDiPSCs) from peripheral blood mononuclear cells (PB-MNCs) of PKD patients by no...

Date: 2015   |   Origin: Repositório do Centro Hospitalar e Universitário de Coimbra
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