{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T20:52:03Z","timestamp":1780087923415,"version":"3.54.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2015,12,1]],"date-time":"2015-12-01T00:00:00Z","timestamp":1448928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100009861","name":"Grousbeck Family Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100009861","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001116","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001116","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"HHMI","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","translationalres.com","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Translational Research"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1016\/j.trsl.2015.08.007","type":"journal-article","created":{"date-parts":[[2015,8,29]],"date-time":"2015-08-29T13:33:14Z","timestamp":1440855194000},"page":"740-749.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65\u00a0kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial"],"prefix":"10.1016","volume":"166","author":[{"given":"Budd A.","family":"Tucker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathryn M.","family":"Cranston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin A.","family":"Anfinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suruchi","family":"Shrestha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luan M.","family":"Streb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Leon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F.","family":"Mullins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.trsl.2015.08.007_bib1","doi-asserted-by":"crossref","first-page":"112","DOI":"10.12998\/wjcc.v3.i2.112","article-title":"Review and update on the molecular basis of Leber congenital amaurosis","volume":"3","author":"Chacon-Camacho","year":"2015","journal-title":"World J Clin Cases"},{"key":"10.1016\/j.trsl.2015.08.007_bib2","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/3813","article-title":"Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle","volume":"20","author":"Redmond","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.trsl.2015.08.007_bib3","doi-asserted-by":"crossref","first-page":"13658","DOI":"10.1073\/pnas.0504167102","article-title":"Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle","volume":"102","author":"Redmond","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.trsl.2015.08.007_bib4","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1146\/annurev.neuro.24.1.779","article-title":"Activation, deactivation, and adaptation in vertebrate photoreceptor cells","volume":"24","author":"Burns","year":"2001","journal-title":"Annu Rev Neurosci"},{"key":"10.1016\/j.trsl.2015.08.007_bib5","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1016\/j.exer.2008.07.015","article-title":"Focus on Molecules: RPE65, the visual cycle retinol isomerase","volume":"88","author":"Redmond","year":"2009","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.trsl.2015.08.007_bib6","doi-asserted-by":"crossref","first-page":"6817","DOI":"10.1167\/iovs.14-14923","article-title":"Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65","volume":"55","author":"Ripamonti","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.trsl.2015.08.007_bib7","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1056\/NEJMoa0802268","article-title":"Effect of gene therapy on visual function in Leber's congenital amaurosis","volume":"358","author":"Bainbridge","year":"2008","journal-title":"N Engl J Med"},{"key":"10.1016\/j.trsl.2015.08.007_bib8","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1016\/S0140-6736(09)61836-5","article-title":"Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial","volume":"374","author":"Maguire","year":"2009","journal-title":"Lancet"},{"key":"10.1016\/j.trsl.2015.08.007_bib9","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1089\/hum.2008.107","article-title":"Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial","volume":"19","author":"Hauswirth","year":"2008","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.trsl.2015.08.007_bib10","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1001\/archophthalmol.2011.298","article-title":"Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years","volume":"130","author":"Jacobson","year":"2012","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.trsl.2015.08.007_bib11","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/gt.2014.39","article-title":"CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype","volume":"21","author":"Burnight","year":"2014","journal-title":"Gene Ther"},{"key":"10.1016\/j.trsl.2015.08.007_bib12","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","article-title":"Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors","volume":"126","author":"Takahashi","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.trsl.2015.08.007_bib13","doi-asserted-by":"crossref","first-page":"16","DOI":"10.5966\/sctm.2012-0040","article-title":"Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation","volume":"2","author":"Tucker","year":"2013","journal-title":"Stem Cells Transl Med"},{"key":"10.1016\/j.trsl.2015.08.007_bib14","doi-asserted-by":"crossref","first-page":"E569","DOI":"10.1073\/pnas.1108918108","article-title":"Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa","volume":"108","author":"Tucker","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.trsl.2015.08.007_bib15","doi-asserted-by":"crossref","first-page":"e00824","DOI":"10.7554\/eLife.00824","article-title":"Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa","volume":"2","author":"Tucker","year":"2013","journal-title":"Elife"},{"key":"10.1016\/j.trsl.2015.08.007_bib16","doi-asserted-by":"crossref","first-page":"5136","DOI":"10.1093\/hmg\/ddt367","article-title":"Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease","volume":"22","author":"Braun","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.trsl.2015.08.007_bib17","first-page":"161","article-title":"Duplication of TBK1 stimulates autophagy in iPSC-derived retinal cells from a patient with normal tension glaucoma","volume":"3","author":"Tucker","year":"2014","journal-title":"J Stem Cell Res Ther"},{"key":"10.1016\/j.trsl.2015.08.007_bib18","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1167\/iovs.10-6106","article-title":"The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis","volume":"52","author":"Weleber","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.trsl.2015.08.007_bib19","doi-asserted-by":"crossref","first-page":"18943","DOI":"10.1074\/jbc.M114.552117","article-title":"Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites","volume":"289","author":"Li","year":"2014","journal-title":"J Biol Chem"},{"key":"10.1016\/j.trsl.2015.08.007_bib20","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.ajo.2007.08.022","article-title":"Leber congenital amaurosis\u2014a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture","volume":"144","author":"Stone","year":"2007","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.trsl.2015.08.007_bib21","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1002\/humu.21033","article-title":"Predicting the pathogenicity of RPE65 mutations","volume":"30","author":"Philp","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.trsl.2015.08.007_bib22","doi-asserted-by":"crossref","first-page":"4047","DOI":"10.1038\/ncomms5047","article-title":"Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs","volume":"5","author":"Zhong","year":"2014","journal-title":"Nat Commun"},{"key":"10.1016\/j.trsl.2015.08.007_bib23","doi-asserted-by":"crossref","first-page":"2007","DOI":"10.1167\/iovs.11-9313","article-title":"Blood-derived human iPS cells generate optic vesicle-like structures with the capacity to form retinal laminae and develop synapses","volume":"53","author":"Phillips","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.trsl.2015.08.007_bib24","doi-asserted-by":"crossref","first-page":"e8763","DOI":"10.1371\/journal.pone.0008763","article-title":"Generation, purification and transplantation of photoreceptors derived from human induced pluripotent stem cells","volume":"5","author":"Lamba","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.trsl.2015.08.007_bib25","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1002\/term.1458","article-title":"Differentiation of human pluripotent stem cells to retinal pigmented epithelium in defined conditions using purified extracellular matrix proteins","volume":"7","author":"Rowland","year":"2013","journal-title":"J Tissue Eng Regen Med"},{"key":"10.1016\/j.trsl.2015.08.007_bib26","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.stemcr.2013.12.007","article-title":"Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application","volume":"2","author":"Kamao","year":"2014","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.trsl.2015.08.007_bib27","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.stem.2012.05.009","article-title":"Self-formation of optic cups and storable stratified neural retina from human ESCs","volume":"10","author":"Nakano","year":"2012","journal-title":"Cell Stem Cell"}],"container-title":["Translational Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1931524415002935?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1931524415002935?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T22:26:37Z","timestamp":1537395997000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1931524415002935"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["S1931524415002935"],"URL":"https:\/\/doi.org\/10.1016\/j.trsl.2015.08.007","relation":{},"ISSN":["1931-5244"],"issn-type":[{"value":"1931-5244","type":"print"}],"subject":[],"published":{"date-parts":[[2015,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65\u00a0kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial","name":"articletitle","label":"Article Title"},{"value":"Translational Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.trsl.2015.08.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}