Haemophilia B might be permanently cured by gene therapy — the introduction of a correct copy of the factor IX gene into the somatic cells of a patient. Here, we have introduced a recombinant human factor IX cDNA into primary human keratinocytes by means of a defective retroviral vector. In tissue culture, transduced keratinocytes were found to secrete biologically active factor IX and after transplantation of these cells into nude mice, human factor IX was detected in the bloodstream in small quantities for one week. This is the first demonstration of a therapeutic protein reaching the bloodstream from transduced primary keratinocytes. This may have implications for the treatment of haemophilia B and other disorders.
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Gerrard, A., Hudson, D., Brownlee, G. et al. Towards gene therapy for haemophilia B using primary human keratinocytes. Nat Genet 3, 180–183 (1993). https://doi.org/10.1038/ng0293-180
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