Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

doi:10.1016/j.stemcr.2015.10.002

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Article

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem cell reports - 8 Dec 2015

Garate Zita, Quintana-Bustamante Oscar, Crane Ana M, Olivier Emmanuel, Poirot Laurent, Galetto Roman, Kosinski Penelope, Hill Collin, Kung Charles, Agirre Xabi, Orman Israel, Cerrato Laura, Alberquilla Omaira, Rodriguez-Fornes Fatima, Fusaki Noemi, Garcia-Sanchez Felix, Maia Tabita M, Ribeiro Maria L, Sevilla Julian, Prosper Felipe, Jin Shengfang, Mountford Joanne, Guenechea Guillermo, Gouble Agnes, Bueren Juan A, Davis Brian R, Segovia Jose C

Abstract excerpt

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...

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Identifiers

PMID: 26549847
DOI: 10.1016/j.stemcr.2015.10.002
PMCID: PMC4682065

Genes

PKLR

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