{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T06:41:47Z","timestamp":1794465707369,"version":"4.9.1"},"reference-count":58,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-19-CE18-0005"],"award-info":[{"award-number":["ANR-19-CE18-0005"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-LABX-65"],"award-info":[{"award-number":["ANR-10-LABX-65"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-18-IAHU-01"],"award-info":[{"award-number":["ANR-18-IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004431","name":"Fondation de France","doi-asserted-by":"publisher","award":["00099565"],"award-info":[{"award-number":["00099565"]}],"id":[{"id":"10.13039\/501100004431","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fondation Retina France Fondation Valentin Ha\u00fcy Institut Carnot Fondation Voir et Entendre"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Commun Biol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Retinal progenitor cells (RPCs) are the source of all retinal cell types during retinogenesis. Until now, the isolation and expansion of RPCs has been at the expense of their multipotency. Here, we report simple methods and media for the generation, expansion, and cryopreservation of human induced pluripotent stem-cell derived-RPCs (hiRPCs). Thawed and passed hiRPCs maintained biochemical and transcriptional RPC phenotypes and their ability to differentiate into all retinal cell types. Specific conditions allowed the generation of large cultures of photoreceptor precursors enriched up to 90% within a few weeks and without a purification step. Combined RNA-seq analysis between hiRPCs and retinal organoids identified genes involved in developmental or degenerative retinal diseases. Thus, hiRPC lines could provide a valuable source of retinal cells for cell-based therapies or drug discovery and could be an advanced cellular tool to better understand retinal dystrophies.<\/jats:p>","DOI":"10.1038\/s42003-023-04956-2","type":"journal-article","created":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T13:03:06Z","timestamp":1689944586000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Bankable human iPSC-derived retinal progenitors represent a valuable source of multipotent cells"],"prefix":"10.1038","volume":"6","author":[{"given":"Sandy","family":"Gozlan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivien","family":"Batoumeni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-7708-9033","authenticated-orcid":false,"given":"Tara","family":"Fournier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Nanteau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anais","family":"Potey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1719-449X","authenticated-orcid":false,"given":"Marilou","family":"Cl\u00e9men\u00e7on","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00ebl","family":"Orieux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Alain","family":"Sahel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Goureau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5061-230X","authenticated-orcid":false,"given":"J\u00e9r\u00f4me E.","family":"Roger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1776-6339","authenticated-orcid":false,"given":"Sacha","family":"Reichman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,7,21]]},"reference":[{"key":"4956_CR1","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1146\/annurev-vision-121219-081855","volume":"6","author":"CM Bell","year":"2020","unstructured":"Bell, C. M., Zack, D. J. & Berlinicke, C. A. Human organoids for the study of retinal development and disease. Annu Rev. Vis. Sci. 6, 91\u2013114 (2020).","journal-title":"Annu Rev. Vis. Sci."},{"key":"4956_CR2","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1111\/dgd.12704","volume":"63","author":"H Uyama","year":"2021","unstructured":"Uyama, H., Mandai, M. & Takahashi, M. Stem-cell-based therapies for retinal degenerative diseases: Current challenges in the establishment of new treatment strategies. Dev. Growth Differ. 63, 59\u201371 (2021).","journal-title":"Dev. Growth Differ."},{"key":"4956_CR3","doi-asserted-by":"crossref","unstructured":"Alfonsetti, M. et al. Looking for in vitro models for retinal diseases. Int. J. Mol. Sci. 22, 10334 (2021).","DOI":"10.3390\/ijms221910334"},{"key":"4956_CR4","doi-asserted-by":"crossref","unstructured":"Afanasyeva, T. A. V. et al. A look into retinal organoids: methods, analytical techniques, and applications. Cell Mol. Life Sci. 78, 6505\u20136532 (2021).","DOI":"10.1007\/s00018-021-03917-4"},{"key":"4956_CR5","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1038\/nrn3767","volume":"15","author":"C Cepko","year":"2014","unstructured":"Cepko, C. Intrinsically different retinal progenitor cells produce specific types of progeny. Nat. Rev. Neurosci. 15, 615\u2013627 (2014).","journal-title":"Nat. Rev. Neurosci."},{"key":"4956_CR6","first-page":"1280","volume":"36","author":"MW Kelley","year":"1995","unstructured":"Kelley, M. W., Turner, J. K. & Reh, T. A. Regulation of proliferation and photoreceptor differentiation in fetal human retinal cell cultures. Invest Ophthalmol. Vis. Sci. 36, 1280\u20131289 (1995).","journal-title":"Invest Ophthalmol. Vis. Sci."},{"key":"4956_CR7","doi-asserted-by":"publisher","first-page":"8518","DOI":"10.1073\/pnas.1324212111","volume":"111","author":"S Reichman","year":"2014","unstructured":"Reichman, S. et al. From confluent human iPS cells to self-forming neural retina and retinal pigmented epithelium. Proc. Natl Acad. Sci. USA 111, 8518\u20138523 (2014).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"4956_CR8","doi-asserted-by":"publisher","first-page":"1206","DOI":"10.1002\/stem.674","volume":"29","author":"JS Meyer","year":"2011","unstructured":"Meyer, J. S. et al. Optic vesicle-like structures derived from human pluripotent stem cells facilitate a customized approach to retinal disease treatment. Stem Cells 29, 1206\u20131218 (2011).","journal-title":"Stem Cells"},{"key":"4956_CR9","doi-asserted-by":"publisher","first-page":"12769","DOI":"10.1073\/pnas.0601990103","volume":"103","author":"DA Lamba","year":"2006","unstructured":"Lamba, D. A., Karl, M. O., Ware, C. B. & Reh, T. A. Efficient generation of retinal progenitor cells from human embryonic stem cells. Proc. Natl Acad. Sci. USA 103, 12769\u201312774 (2006).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"4956_CR10","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1016\/j.stem.2012.05.009","volume":"10","author":"T Nakano","year":"2012","unstructured":"Nakano, T. et al. Self-formation of optic cups and storable stratified neural retina from human ESCs. Cell Stem Cell 10, 771\u2013785 (2012).","journal-title":"Cell Stem Cell"},{"key":"4956_CR11","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5047","volume":"5","author":"X Zhong","year":"2014","unstructured":"Zhong, X. et al. Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs. Nat. Commun. 5, 4047 (2014).","journal-title":"Nat. Commun."},{"key":"4956_CR12","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1016\/j.exer.2010.07.003","volume":"91","author":"FC Mansergh","year":"2010","unstructured":"Mansergh, F. C. et al. Loss of photoreceptor potential from retinal progenitor cell cultures, despite improvements in survival. Exp. Eye Res 91, 500\u2013512 (2010).","journal-title":"Exp. Eye Res"},{"key":"4956_CR13","doi-asserted-by":"publisher","first-page":"e41798","DOI":"10.1371\/journal.pone.0041798","volume":"7","author":"M Czekaj","year":"2012","unstructured":"Czekaj, M. et al. In vitro expanded stem cells from the developing retina fail to generate photoreceptors but differentiate into myelinating oligodendrocytes. PLoS One 7, e41798 (2012).","journal-title":"PLoS One"},{"key":"4956_CR14","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1167\/iovs.13-12592","volume":"55","author":"R Ringuette","year":"2014","unstructured":"Ringuette, R. et al. Combinatorial hedgehog and mitogen signaling promotes the in vitro expansion but not retinal differentiation potential of retinal progenitor cells. Investig. Opthalmol. Vis. Sci. 55, 43 (2014).","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"4956_CR15","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1016\/j.stemcr.2018.07.005","volume":"11","author":"G Gagliardi","year":"2018","unstructured":"Gagliardi, G. et al. Characterization and transplantation of CD73-positive photoreceptors isolated from human iPSC-derived retinal organoids. Stem Cell Rep. 11, 665\u2013680 (2018).","journal-title":"Stem Cell Rep."},{"key":"4956_CR16","doi-asserted-by":"publisher","first-page":"1176","DOI":"10.1002\/stem.2586","volume":"35","author":"S Reichman","year":"2017","unstructured":"Reichman, S. et al. Generation of storable retinal organoids and retinal pigmented epithelium from adherent human iPS cells in xeno-free and feeder-free conditions. Stem Cells 35, 1176\u20131188 (2017).","journal-title":"Stem Cells"},{"key":"4956_CR17","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1155\/2019\/7858796","volume":"2019","author":"A Slembrouck-Brec","year":"2019","unstructured":"Slembrouck-Brec, A. et al. Reprogramming of adult retinal m\u00fcller glial cells into human-induced pluripotent stem cells as an efficient source of retinal cells. Stem Cells Int 2019, 18\u201321 (2019).","journal-title":"Stem Cells Int"},{"key":"4956_CR18","doi-asserted-by":"crossref","unstructured":"Slembrouck-Brec, A., Nanteau, C., Sahel, J.-A., Goureau, O. & Reichman, S. Defined Xeno-free and Feeder-free Culture Conditions for the Generation of Human iPSC-derived Retinal Cell Models. J. Vis. Exp. 57795 (2018).","DOI":"10.3791\/57795"},{"key":"4956_CR19","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1038\/nmeth.1593","volume":"8","author":"G Chen","year":"2011","unstructured":"Chen, G. et al. Chemically defined conditions for human iPSC derivation and culture. Nat. Methods 8, 424\u2013429 (2011).","journal-title":"Nat. Methods"},{"key":"4956_CR20","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1016\/j.stemcr.2019.08.012","volume":"13","author":"X Mao","year":"2019","unstructured":"Mao, X. et al. Single-cell RNA sequencing of hESC-derived 3D retinal organoids reveals novel genes regulating RPC commitment in early human retinogenesis. Stem Cell Rep. 13, 747\u2013760 (2019).","journal-title":"Stem Cell Rep."},{"key":"4956_CR21","doi-asserted-by":"publisher","first-page":"e1588","DOI":"10.1371\/journal.pone.0001588","volume":"3","author":"JM Trimarchi","year":"2008","unstructured":"Trimarchi, J. M., Stadler, M. B. & Cepko, C. L. Individual retinal progenitor cells display extensive heterogeneity of gene expression. PLoS One 3, e1588 (2008).","journal-title":"PLoS One"},{"key":"4956_CR22","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1016\/j.neuron.2019.04.010","volume":"102","author":"BS Clark","year":"2019","unstructured":"Clark, B. S. et al. Single-Cell RNA-Seq analysis of retinal development identifies NFI factors as regulating mitotic exit and late-born cell specification. Neuron 102, 1111\u20131126.e5 (2019).","journal-title":"Neuron"},{"key":"4956_CR23","doi-asserted-by":"crossref","unstructured":"Fuhrmann, S. Eye morphogenesis and patterning of the optic vesicle. Curr. Top. Dev. Biol. 93, 61\u201384 (2010).","DOI":"10.1016\/B978-0-12-385044-7.00003-5"},{"key":"4956_CR24","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.semcdb.2003.09.001","volume":"15","author":"EM Levine","year":"2004","unstructured":"Levine, E. M. & Green, E. S. Cell-intrinsic regulators of proliferation in vertebrate retinal progenitors. Semin Cell Dev. Biol. 15, 63\u201374 (2004).","journal-title":"Semin Cell Dev. Biol."},{"key":"4956_CR25","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/S0166-2236(00)02028-2","volume":"25","author":"T Marquardt","year":"2002","unstructured":"Marquardt, T. & Gruss, P. Generating neuronal diversity in the retina: one for nearly all. Trends Neurosci. 25, 32\u201338 (2002).","journal-title":"Trends Neurosci."},{"key":"4956_CR26","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1146\/annurev.cellbio.042308.113259","volume":"25","author":"M Agathocleous","year":"2009","unstructured":"Agathocleous, M. & Harris, W. A. From progenitors to differentiated cells in the vertebrate retina. Annu Rev. Cell Dev. Biol. 25, 45\u201369 (2009).","journal-title":"Annu Rev. Cell Dev. Biol."},{"key":"4956_CR27","doi-asserted-by":"crossref","unstructured":"Van Camp, J. K., Beckers, S., Zegers, D. & Van Hul, W. Wnt signaling and the control of human stem cell fate. Stem Cell Rev. Rep. 10, 207\u2013229 (2014).","DOI":"10.1007\/s12015-013-9486-8"},{"key":"4956_CR28","doi-asserted-by":"crossref","unstructured":"Meyers, J. R. et al. \u03b2 -catenin \/ Wnt signaling controls progenitor fate in the developing and regenerating zebrafish retina \u03b2 -catenin \/ Wnt signaling controls progenitor fate in the developing and regenerating zebrafish retina. Neural Dev. 7, 30 (2012).","DOI":"10.1186\/1749-8104-7-30"},{"key":"4956_CR29","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1007\/s00018-003-3370-7","volume":"61","author":"MA Amato","year":"2004","unstructured":"Amato, M. A., Boy, S. & Perron, M. Hedgehog signaling in vertebrate eye development: a growing puzzle. Cell Mol. Life Sci. 61, 899\u2013910 (2004).","journal-title":"Cell Mol. Life Sci."},{"key":"4956_CR30","doi-asserted-by":"publisher","first-page":"5103","DOI":"10.1242\/dev.02096","volume":"132","author":"Y Wang","year":"2005","unstructured":"Wang, Y., Dakubo, G. D., Thurig, S., Mazerolle, C. J. & Wallace, V. A. Retinal ganglion cell-derived sonic hedgehog locally controls proliferation and the timing of RGC development in the embryonic mouse retina. Development 132, 5103\u20135113 (2005).","journal-title":"Development"},{"key":"4956_CR31","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/j.brainres.2007.06.018","volume":"1192","author":"VA Wallace","year":"2008","unstructured":"Wallace, V. A. Proliferative and cell fate effects of Hedgehog signaling in the vertebrate retina. Brain Res. 1192, 61\u201375 (2008).","journal-title":"Brain Res."},{"key":"4956_CR32","doi-asserted-by":"publisher","first-page":"3499","DOI":"10.1242\/dev.079582","volume":"139","author":"C Borday","year":"2012","unstructured":"Borday, C. et al. Antagonistic cross-regulation between Wnt and Hedgehog signalling pathways controls post-embryonic retinal proliferation. Development 139, 3499\u20133509 (2012).","journal-title":"Development"},{"key":"4956_CR33","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1083\/jcb.200805155","volume":"184","author":"DS Wall","year":"2009","unstructured":"Wall, D. S. et al. Progenitor cell proliferation in the retina is dependent on Notch-independent Sonic hedgehog\/Hes1 activity. J. Cell Biol. 184, 101\u2013112 (2009).","journal-title":"J. Cell Biol."},{"key":"4956_CR34","doi-asserted-by":"publisher","first-page":"4607","DOI":"10.1242\/dev.01298","volume":"131","author":"JR Spence","year":"2004","unstructured":"Spence, J. R. et al. The hedgehog pathway is a modulator of retina regeneration. Development 131, 4607\u20134621 (2004).","journal-title":"Development"},{"key":"4956_CR35","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.semcdb.2003.09.004","volume":"15","author":"X-J Yang","year":"2004","unstructured":"Yang, X.-J. Roles of cell-extrinsic growth factors in vertebrate eye pattern formation and retinogenesis. Semin Cell Dev. Biol. 15, 91\u2013103 (2004).","journal-title":"Semin Cell Dev. Biol."},{"key":"4956_CR36","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.semcdb.2003.09.003","volume":"15","author":"I Ahmad","year":"2004","unstructured":"Ahmad, I., Das, A. V., James, J., Bhattacharya, S. & Zhao, X. Neural stem cells in the mammalian eye: types and regulation. Semin Cell Dev. Biol. 15, 53\u201362 (2004).","journal-title":"Semin Cell Dev. Biol."},{"key":"4956_CR37","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1016\/j.neuron.2005.04.024","volume":"46","author":"RA Pearson","year":"2005","unstructured":"Pearson, R. A., Dale, N., Llaudet, E. & Mobbs, P. ATP released via gap junction hemichannels from the pigment epithelium regulates neural retinal progenitor proliferation. Neuron 46, 731\u2013744 (2005).","journal-title":"Neuron"},{"key":"4956_CR38","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.ijdevneu.2009.09.004","volume":"28","author":"A Sholl-Franco","year":"2010","unstructured":"Sholl-Franco, A., Fragel-Madeira, L., Macama, A. D. C. C., Linden, R. & Ventura, A. L. M. ATP controls cell cycle and induces proliferation in the mouse developing retina. Int J. Dev. Neurosci. 28, 63\u201373 (2010).","journal-title":"Int J. Dev. Neurosci."},{"key":"4956_CR39","doi-asserted-by":"crossref","unstructured":"Almeida-pereira, L. De et al. Adenine nucleotides control proliferation in vivo of rat retinal progenitors by P2Y 1 receptor. Mol. Neurobiol. 54, 5142\u20135155 (2016).","DOI":"10.1007\/s12035-016-0059-0"},{"key":"4956_CR40","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/j.ijdevneu.2010.06.001","volume":"28","author":"IM Ornelas","year":"2010","unstructured":"Ornelas, I. M. & Ventura, A. L. M. Involvement of the PI3K\/AKT pathway in ATP-induced proliferation of developing retinal cells in culture. Int. J. Dev. Neurosci. 28, 503\u2013511 (2010).","journal-title":"Int. J. Dev. Neurosci."},{"key":"4956_CR41","doi-asserted-by":"publisher","first-page":"1391","DOI":"10.1002\/stem.694","volume":"29","author":"J Lakowski","year":"2011","unstructured":"Lakowski, J. et al. Effective transplantation of photoreceptor precursor cells selected via cell surface antigen expression. Stem Cells 29, 1391\u20131404 (2011).","journal-title":"Stem Cells"},{"key":"4956_CR42","doi-asserted-by":"crossref","unstructured":"Ferreira, T. S., Postel, K., Stutzki, H., Zeck, G. & Ader, M. Daylight vision repair by cell transplantation. Stem Cells 33, 79\u201390 (2015).","DOI":"10.1002\/stem.1824"},{"key":"4956_CR43","doi-asserted-by":"crossref","unstructured":"Gagliardi, G., Ben M\u2019Barek, K. & Goureau, O. Photoreceptor cell replacement in macular degeneration and retinitis pigmentosa: A pluripotent stem cell-based approach. Prog. Retin. Eye Res. 71, 1\u201325 (2019).","DOI":"10.1016\/j.preteyeres.2019.03.001"},{"key":"4956_CR44","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1002\/humu.21658","volume":"33","author":"AM Slavotinek","year":"2012","unstructured":"Slavotinek, A. M. et al. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Hum. Mutat. 33, 364\u2013368 (2012).","journal-title":"Hum. Mutat."},{"key":"4956_CR45","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1111\/cge.12277","volume":"86","author":"L Roos","year":"2014","unstructured":"Roos, L. et al. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. Clin. Genet 86, 276\u2013281 (2014).","journal-title":"Clin. Genet"},{"key":"4956_CR46","doi-asserted-by":"publisher","first-page":"27","DOI":"10.3233\/JAD-150424","volume":"49","author":"G Tumminelli","year":"2016","unstructured":"Tumminelli, G. et al. Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene. J. Alzheimers Dis. 49, 27\u201330 (2016).","journal-title":"J. Alzheimers Dis."},{"key":"4956_CR47","doi-asserted-by":"crossref","unstructured":"Mancini, C. et al. A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. Eur. J. Med. Genet. 62, 103578 (2019).","DOI":"10.1016\/j.ejmg.2018.11.012"},{"key":"4956_CR48","first-page":"2274","volume":"19","author":"SS Whitmore","year":"2013","unstructured":"Whitmore, S. S. et al. Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells. Mol. Vis. 19, 2274\u20132297 (2013).","journal-title":"Mol. Vis."},{"key":"4956_CR49","doi-asserted-by":"crossref","unstructured":"Cao, K., Sahebjada, S., Richardson, A. J. & Baird, P. N. Do age-related macular degeneration genes show association with keratoconus? Eye Vis. (Lond) 6, 38 (2019).","DOI":"10.1186\/s40662-019-0164-z"},{"key":"4956_CR50","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/j.ajhg.2011.06.002","volume":"89","author":"PI Sergouniotis","year":"2011","unstructured":"Sergouniotis, P. I. et al. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am. J. Hum. Genet 89, 183\u2013190 (2011).","journal-title":"Am. J. Hum. Genet"},{"key":"4956_CR51","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1002\/humu.22807","volume":"36","author":"BR Pattnaik","year":"2015","unstructured":"Pattnaik, B. R. et al. A novel KCNJ13 nonsense mutation and loss of Kir7.1 channel function causes leber congenital amaurosis (LCA16). Hum. Mutat. 36, 720\u2013727 (2015).","journal-title":"Hum. Mutat."},{"key":"4956_CR52","doi-asserted-by":"crossref","unstructured":"Ghorai, S. et al. Structure-activity relationship of human carbonic anhydrase-II inhibitors: Detailed insight for future development as anti-glaucoma agents. Bioorg. Chem. 95, 103557 (2020).","DOI":"10.1016\/j.bioorg.2019.103557"},{"key":"4956_CR53","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1007\/978-3-319-95046-4_27","volume":"1085","author":"SH Tsang","year":"2018","unstructured":"Tsang, S. H. & Sharma, T. Stargardt disease. Adv. Exp. Med Biol. 1085, 139\u2013151 (2018).","journal-title":"Adv. Exp. Med Biol."},{"key":"4956_CR54","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","volume":"29","author":"A Dobin","year":"2013","unstructured":"Dobin, A. et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics 29, 15\u201321 (2013).","journal-title":"Bioinformatics"},{"key":"4956_CR55","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1093\/bioinformatics\/btt656","volume":"30","author":"Y Liao","year":"2014","unstructured":"Liao, Y., Smyth, G. K. & Shi, W. featureCounts: an efficient general purpose program for assigning sequence reads to genomic features. Bioinformatics 30, 923\u2013930 (2014).","journal-title":"Bioinformatics"},{"key":"4956_CR56","unstructured":"Chen, Y. et al. edgeR: differential analysis of sequence read count data User\u2019s Guide. R package 1\u2013121 (2020)."},{"key":"4956_CR57","doi-asserted-by":"crossref","unstructured":"Zhou, Y. et al. Metascape provides a biologist-oriented resource for the analysis of systems-level datasets. Nat. Commun. 10, 1523 (2019).","DOI":"10.1038\/s41467-019-09234-6"},{"key":"4956_CR58","doi-asserted-by":"publisher","first-page":"2912","DOI":"10.1093\/bioinformatics\/btv300","volume":"31","author":"W Walter","year":"2015","unstructured":"Walter, W., S\u00e1nchez-Cabo, F. & Ricote, M. GOplot: an R package for visually combining expression data with functional analysis. Bioinformatics 31, 2912\u20132914 (2015).","journal-title":"Bioinformatics"}],"container-title":["Communications Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s42003-023-04956-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s42003-023-04956-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s42003-023-04956-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T13:09:11Z","timestamp":1689944951000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s42003-023-04956-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,21]]},"references-count":58,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["4956"],"URL":"https:\/\/doi.org\/10.1038\/s42003-023-04956-2","relation":{},"ISSN":["2399-3642"],"issn-type":[{"value":"2399-3642","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,21]]},"assertion":[{"value":"21 February 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 April 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 July 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"S.R., O.G., and J.-A.S. are inventors on a patent on iPSC retinal differentiation (WO2014174492 and WO2018149985). S.R., O.G., and J.-A.S. are inventors on a patent based on the work covered in this manuscript (WO2019170766). All other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"762"}}