Advanced cell‐based modeling of the royal disease: characterization of the mutated F9 mRNA

Essentials The Royal disease (RD) is a form of hemophilia B predicted to be caused by a splicing mutation. We generated an iPSC‐based model of the disease allowing mechanistic studies at the RNA level. F9 mRNA analysis in iPSC‐derived hepatocyte‐like cells showed the predicted abnormal splicing. Mutated F9 mRNA level was very low but we also found traces of wild type transcripts.

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