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Article

Normal Collagen and Bone Production by Gene-targeted Human Osteogenesis Imperfecta iPSCs

26 Oct 2011

Abstract excerpt

Osteogenesis imperfecta (OI) is caused by dominant mutations in the type I collagen genes. In principle, the skeletal abnormalities of OI could be treated by transplantation of patient-specific, bone-forming cells that no longer express the mutant gene. Here, we develop this approach by isolating mesenchymal cells from OI patients, inactivating their mutant collagen genes by adeno-associated virus (AAV)-mediated...

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PMID: 22031238
DOI: 10.1038/mt.2011.209

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