{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T02:15:43Z","timestamp":1792721743763,"version":"4.5.0"},"reference-count":38,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"8","license":[{"start":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T00:00:00Z","timestamp":1563494400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2019,7,19]]},"DOI":"10.1167\/iovs.19-26930","type":"journal-article","created":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T14:30:29Z","timestamp":1563546629000},"page":"3084","source":"Crossref","is-referenced-by-count":22,"title":["IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of\n                    <i>SLC4A11<\/i>\n                    Variants on Pre-mRNA Splicing"],"prefix":"10.1167","volume":"60","author":[{"given":"Kristyna","family":"Brejchova","sequence":"first","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubica","family":"Dudakova","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavlina","family":"Skalicka","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic"},{"name":"Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Dobrovolny","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Masek","sequence":"additional","affiliation":[{"name":"Clinic of Ophthalmology, University Hospital Ostrava, Ostrava, Czech Republic"},{"name":"Department of Craniofacial Surgery, University of Ostrava, Ostrava, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Putzova","sequence":"additional","affiliation":[{"name":"Biopticka laborator s.r.o., Pilsen, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"},{"name":"Great Ormond Street Hospital for Children, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J.","family":"Tuft","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice E.","family":"Davidson","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Liskova","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic"},{"name":"Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic"},{"name":"UCL Institute of Ophthalmology, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"i1552-5783-60-8-3084-b01","doi-asserted-by":"crossref","unstructured":"Desir J, Abramowicz M. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). Orphanet J Rare Dis. 2008; 3: 28.","DOI":"10.1186\/1750-1172-3-28"},{"key":"i1552-5783-60-8-3084-b02","unstructured":"Kodaganur SG, Kapoor S, Veerappa AM, et al. Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature. Mol Vis. 2013; 19: 1694\u20131706."},{"key":"i1552-5783-60-8-3084-b03","doi-asserted-by":"crossref","unstructured":"Kao L, Azimov R, Abuladze N, Newman D, Kurtz I. Human SLC4A11-C functions as a DIDS-stimulatable H(+)(OH(-)) permeation pathway: partial correction of R109H mutant transport. Am J Physiol Cell Physiol. 2015; 308: C176\u2013C188.","DOI":"10.1152\/ajpcell.00271.2014"},{"key":"i1552-5783-60-8-3084-b04","doi-asserted-by":"crossref","unstructured":"Ogando DG, Jalimarada SS, Zhang W, Vithana EN, Bonanno JA. SLC4A11 is an EIPA-sensitive Na(+) permeable pHi regulator. Am J Physiol Cell Physiol. 2013; 305: C716\u2013C727.","DOI":"10.1152\/ajpcell.00056.2013"},{"key":"i1552-5783-60-8-3084-b05","doi-asserted-by":"crossref","unstructured":"Zhang W, Ogando DG, Bonanno JA, Obukhov AG. Human SLC4A11 is a novel NH3\/H+ co-transporter. J Biol Chem. 2015; 290: 16894\u201316905.","DOI":"10.1074\/jbc.M114.627455"},{"key":"i1552-5783-60-8-3084-b06","doi-asserted-by":"crossref","unstructured":"Vilas GL, Loganathan SK, Liu J, et al. Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases. Hum Mol Genet. 2013; 22: 4579\u20134590.","DOI":"10.1093\/hmg\/ddt307"},{"key":"i1552-5783-60-8-3084-b07","doi-asserted-by":"crossref","unstructured":"Guha S, Chaurasia S, Ramachandran C, Roy S. SLC4A11 depletion impairs NRF2 mediated antioxidant signaling and increases reactive oxygen species in human corneal endothelial cells during oxidative stress. Sci Rep. 2017; 7: 4074.","DOI":"10.1038\/s41598-017-03654-4"},{"key":"i1552-5783-60-8-3084-b08","doi-asserted-by":"crossref","unstructured":"Han SB, Ang HP, Poh R, et al. Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy. Invest Ophthalmol Vis Sci. 2013; 54: 6179\u20136189.","DOI":"10.1167\/iovs.13-12089"},{"key":"i1552-5783-60-8-3084-b09","doi-asserted-by":"crossref","unstructured":"Groger N, Frohlich H, Maier H, et al. SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria. J Biol Chem. 2010; 285: 14467\u201314474.","DOI":"10.1074\/jbc.M109.094680"},{"key":"i1552-5783-60-8-3084-b10","doi-asserted-by":"crossref","unstructured":"Parker MD, Ourmozdi EP, Tanner MJ. Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. Biochem Biophys Res Commun. 2001; 282: 1103\u20131109.","DOI":"10.1006\/bbrc.2001.4692"},{"key":"i1552-5783-60-8-3084-b11","doi-asserted-by":"crossref","unstructured":"Ebert AD, Liang P, Wu JC. Induced pluripotent stem cells as a disease modeling and drug screening platform. J Cardiovasc Pharmacol. 2012; 60: 408\u2013416.","DOI":"10.1097\/FJC.0b013e318247f642"},{"key":"i1552-5783-60-8-3084-b12","doi-asserted-by":"crossref","unstructured":"Ali M, Khan SY, Vasanth S, et al. Generation and proteome profiling of PBMC-originated, iPSC-derived corneal endothelial cells. Invest Ophthalmol Vis Sci. 2018; 59: 2437\u20132444.","DOI":"10.1167\/iovs.17-22927"},{"key":"i1552-5783-60-8-3084-b13","doi-asserted-by":"crossref","unstructured":"Wagoner MD, Bohrer LR, Aldrich BT, et al. Feeder-free differentiation of cells exhibiting characteristics of corneal endothelium from human induced pluripotent stem cells. Biol Open. 2018; 7: bio032102.","DOI":"10.1242\/bio.032102"},{"key":"i1552-5783-60-8-3084-b14","doi-asserted-by":"crossref","unstructured":"Zhao JJ, Afshari NA. Generation of human corneal endothelial cells via in vitro ocular lineage restriction of pluripotent stem cells. Invest Ophthalmol Vis Sci. 2016; 57: 6878\u20136884.","DOI":"10.1167\/iovs.16-20024"},{"key":"i1552-5783-60-8-3084-b15","doi-asserted-by":"crossref","unstructured":"den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat. 2016; 37: 564\u2013569.","DOI":"10.1002\/humu.22981"},{"key":"i1552-5783-60-8-3084-b16","doi-asserted-by":"crossref","unstructured":"Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016; 536: 285\u2013291.","DOI":"10.1038\/nature19057"},{"key":"i1552-5783-60-8-3084-b17","doi-asserted-by":"crossref","unstructured":"Reboun M, Rybova J, Dobrovolny R, et al. X-chromosome inactivation analysis in different cell types and induced pluripotent stem cells elucidates the disease mechanism in a rare case of mucopolysaccharidosis type II in a female. Folia Biol (Praha). 2016; 62: 82\u201389.","DOI":"10.14712\/fb2016062020082"},{"key":"i1552-5783-60-8-3084-b18","doi-asserted-by":"crossref","unstructured":"McCabe KL, Kunzevitzky NJ, Chiswell BP, Xia X, Goldberg JL, Lanza R. Efficient generation of human embryonic stem cell-derived corneal endothelial cells by directed differentiation. PLoS One. 2015; 10: e0145266.","DOI":"10.1371\/journal.pone.0145266"},{"key":"i1552-5783-60-8-3084-b19","doi-asserted-by":"crossref","unstructured":"Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, et al. Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity. Am J Hum Genet. 2018; 102: 528\u2013539.","DOI":"10.1016\/j.ajhg.2018.02.010"},{"key":"i1552-5783-60-8-3084-b20","doi-asserted-by":"crossref","unstructured":"He Z, Forest F, Gain P, et al. 3D map of the human corneal endothelial cell. Sci Rep. 2016; 6: 29047.","DOI":"10.1038\/srep29047"},{"key":"i1552-5783-60-8-3084-b21","doi-asserted-by":"crossref","unstructured":"Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem. 1987; 162: 156\u2013159.","DOI":"10.1016\/0003-2697(87)90021-2"},{"key":"i1552-5783-60-8-3084-b22","doi-asserted-by":"crossref","unstructured":"Dobin A, Davis CA, Schlesinger F, et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics. 2013; 29: 15\u201321.","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"i1552-5783-60-8-3084-b23","doi-asserted-by":"crossref","unstructured":"Thorvaldsdottir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform. 2013; 14: 178\u2013192.","DOI":"10.1093\/bib\/bbs017"},{"key":"i1552-5783-60-8-3084-b24","doi-asserted-by":"crossref","unstructured":"Alka K, Casey JR. Molecular phenotype of SLC4A11 missense mutants: setting the stage for personalized medicine in corneal dystrophies. Hum Mutat. 2018; 39: 676\u2013690.","DOI":"10.1002\/humu.23401"},{"key":"i1552-5783-60-8-3084-b25","doi-asserted-by":"crossref","unstructured":"Jiao X, Sultana A, Garg P, et al. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet. 2007; 44: 64\u201368.","DOI":"10.1136\/jmg.2006.044644"},{"key":"i1552-5783-60-8-3084-b26","doi-asserted-by":"crossref","unstructured":"Hemadevi B, Veitia RA, Srinivasan M, et al. Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy. Arch Ophthalmol. 2008; 126: 700\u2013708.","DOI":"10.1001\/archopht.126.5.700"},{"key":"i1552-5783-60-8-3084-b27","doi-asserted-by":"crossref","unstructured":"Ramprasad VL, Ebenezer ND, Aung T, et al. Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Hum Mutat. 2007; 28: 522\u2013523.","DOI":"10.1002\/humu.9487"},{"key":"i1552-5783-60-8-3084-b28","unstructured":"Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis. 2007; 13: 1327\u20131332."},{"key":"i1552-5783-60-8-3084-b29","unstructured":"Paliwal P, Sharma A, Tandon R, et al. Congenital hereditary endothelial dystrophy\u2014mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort. Mol Vis. 2010; 16: 2955\u20132963."},{"key":"i1552-5783-60-8-3084-b30","doi-asserted-by":"crossref","unstructured":"Chiu AM, Mandziuk JJ, Loganathan SK, Alka K, Casey JR. High throughput assay identifies glafenine as a corrector for the folding defect in corneal dystrophy-causing mutants of SLC4A11. Invest Ophthalmol Vis Sci. 2015; 56: 7739\u20137753.","DOI":"10.1167\/iovs.15-17802"},{"key":"i1552-5783-60-8-3084-b31","doi-asserted-by":"crossref","unstructured":"Liu J, Seet LF, Koh LW, et al. Depletion of SLC4A11 causes cell death by apoptosis in an immortalized human corneal endothelial cell line. Invest Ophthalmol Vis Sci. 2012; 53: 3270\u20133279.","DOI":"10.1167\/iovs.11-8724"},{"key":"i1552-5783-60-8-3084-b32","doi-asserted-by":"crossref","unstructured":"Roy S, Praneetha DC, Vendra VP. Mutations in the corneal endothelial dystrophy-associated gene SLC4A11 render the cells more vulnerable to oxidative insults. Cornea. 2015; 34: 668\u2013674.","DOI":"10.1097\/ICO.0000000000000421"},{"key":"i1552-5783-60-8-3084-b33","doi-asserted-by":"crossref","unstructured":"Badior KE, Alka K, Casey JR. SLC4A11 three-dimensional homology model rationalizes corneal dystrophy-causing mutations. Hum Mutat. 2017; 38: 279\u2013288.","DOI":"10.1002\/humu.23152"},{"key":"i1552-5783-60-8-3084-b34","doi-asserted-by":"crossref","unstructured":"Vilas GL, Morgan PE, Loganathan SK, Quon A, Casey JR. A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies. Biochemistry. 2011; 50: 2157\u20132169.","DOI":"10.1021\/bi101887z"},{"key":"i1552-5783-60-8-3084-b35","doi-asserted-by":"crossref","unstructured":"Desir J, Moya G, Reish O, et al. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet. 2007; 44: 322\u2013326.","DOI":"10.1136\/jmg.2006.046904"},{"key":"i1552-5783-60-8-3084-b36","doi-asserted-by":"crossref","unstructured":"Siddiqui S, Zenteno JC, Rice A, et al. Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome. Cornea. 2014; 33: 247\u2013251.","DOI":"10.1097\/ICO.0000000000000041"},{"key":"i1552-5783-60-8-3084-b37","doi-asserted-by":"crossref","unstructured":"Cunnusamy K, Bowman CB, Beebe W, Gong X, Hogan RN, Mootha VV. Congenital corneal endothelial dystrophies resulting from novel de novo mutations. Cornea. 2016; 35: 281\u2013285.","DOI":"10.1097\/ICO.0000000000000670"},{"key":"i1552-5783-60-8-3084-b38","doi-asserted-by":"crossref","unstructured":"Evans CJ, Liskova P, Dudakova L, et al. Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3. Ann Hum Genet. 2015; 79: 1\u20139.","DOI":"10.1111\/ahg.12090"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2738678","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:07Z","timestamp":1791927067000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2738678"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,19]]},"references-count":38,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,7,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.19-26930","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7,19]]}}}