Ontology highlight
ABSTRACT:
SUBMITTER: Garate Z
PROVIDER: S-EPMC4682065 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Garate Zita Z Quintana-Bustamante Oscar O Crane Ana M AM Olivier Emmanuel E Poirot Laurent L Galetto Roman R Kosinski Penelope P Hill Collin C Kung Charles C Agirre Xabi X Orman Israel I Cerrato Laura L Alberquilla Omaira O Rodriguez-Fornes Fatima F Fusaki Noemi N Garcia-Sanchez Felix F Maia Tabita M TM Ribeiro Maria L ML Sevilla Julian J Prosper Felipe F Jin Shengfang S Mountford Joanne J Guenechea Guillermo G Gouble Agnes A Bueren Juan A JA Davis Brian R BR Segovia Jose C JC
Stem cell reports 20151105 6
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 non-integrative Sendai viral vectors. PKDiPSCs were gene edited to integrate a partial c ...[more]