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There is no cure for JNCL, and patients usually die during the second or third decade of life. In this study, independent lines of induced pluripotent stem cells (iPSCs) were generated from two patients with molecularly confirmed mutations in\n                    <jats:italic toggle=\"yes\">CLN3<\/jats:italic>\n                    , the gene mutated in JNCL. Clinical-grade adeno-associated adenovirus serotype 2 (AAV2) carrying the full-length coding sequence of human\n                    <jats:italic toggle=\"yes\">CLN3<\/jats:italic>\n                    was generated in a U.S. Food and Drug Administration-registered cGMP facility. AAV2-\n                    <jats:italic toggle=\"yes\">CLN3<\/jats:italic>\n                    was efficacious in restoring full-length\n                    <jats:italic toggle=\"yes\">CLN3<\/jats:italic>\n                    transcript and protein in patient-specific fibroblasts and iPSC-derived retinal neurons. When injected into the subretinal space of wild-type mice, purified AAV2-\n                    <jats:italic toggle=\"yes\">CLN3<\/jats:italic>\n                    did not show any evidence of retinal toxicity. This study provides proof-of-principle for initiation of a clinical trial using AAV-mediated gene augmentation for the treatment of children with\n                    <jats:italic toggle=\"yes\">CLN3<\/jats:italic>\n                    -associated retinal degeneration.\n                  <\/jats:p>","DOI":"10.1089\/hum.2016.049","type":"journal-article","created":{"date-parts":[[2016,7,11]],"date-time":"2016-07-11T23:15:00Z","timestamp":1468278900000},"page":"835-846","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":32,"title":["Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat\n                    <i>CLN3<\/i>\n                    -Associated Retinal Degeneration"],"prefix":"10.1177","volume":"27","author":[{"given":"Luke A.","family":"Wiley","sequence":"first","affiliation":[{"name":"University of 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