Research ArticleSKIN DISEASE

Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa

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Science Translational Medicine  26 Nov 2014:
Vol. 6, Issue 264, pp. 264ra163
DOI: 10.1126/scitranslmed.3009540

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Patient-Specific Stem Cell Therapy for Rare Skin Disease

Recessive dystrophic epidermolysis bullosa (RDEB) is characterized by a mutation in the COL7A1 gene, which causes severe skin fragility and blistering. Although rare, patients with RDEB spend their lives in pain, fearful of even the slightest amount of friction. There are no cures for this disease, but cell therapy represents a viable option, as demonstrated by Sebastiano et al. in this issue. The authors took skin biopsies from three adult patients with RDEB and generated induced pluripotent stem cells, or iPSCs, from the keratinocytes (skin cells) and fibroblasts present in the tissue. The COL7A1 mutation in the iPSCs was corrected using a new adeno-associated viral approach. The genetically repaired iPSCs were screened to make sure they did not have any genes associated with squamous cell carcinoma—a cancer common to RDEB patients—and were then differentiated into keratinocytes that expressed full-length wild-type collagen VII protein. In vitro and in vivo in mice, these “corrected” keratinocytes were able to form sheets of skin with a defined layer of collagen VII. Although the skin grafts only lasted for 3 weeks, and further testing is needed in a disease model, the ability to correct and bank a patient’s own cells and to select “clean” iPSCs represents an important step forward in devising a treatment for those affected by RDEB.

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