GENERATION OF INDUCED PLURIPOTENT STEM CELLS (IPSCS) FROM AN INFANT WITH POMPE DISEASE CARRYING WITH COMPOUND MUTATIONS OF R608X AND E888X IN GAA GENE

Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, PD) carries compound MACROGEST mutations R608X E888X in GAA gene.PBMCs were reprogrammed using non-integrative Se

Myocardial infarction (MI) is a fatal heart disease with high morbidity and mortality.Various Papaya studies have demonstrated that a series of relatively specific biological events occur within 24 h of MI.However, the roles of histone modifications in this pathological process are still poorly understood.To investigate the regulation of histone mo

Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset Papaya disorders stemming from defects in pyruvate catabolism.They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is implicated in most cases of PDHC deficiency worldwide, no pathogenic variants have been r