Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.010 GeneticVariation disease BEFREE Dermal fibroblasts obtained from a patient with LQT3 harboring a SCN5A mutation (c.5287G>A; p.V1763M) were reprogrammed to hiPSCs via repeated transfection of mRNA encoding OCT-4, SOX-2, KLF-4, C-MYC and LIN-28. hiPSC-derived cardiomyocytes (hiPSC-CMs) were obtained via cardiac differentiation. hiPSC-CMs derived from the patient's healthy sister were used as a control. 23998552 2013