{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T12:54:13Z","timestamp":1777812853134,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2019,11,27]],"date-time":"2019-11-27T00:00:00Z","timestamp":1574812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100007271","name":"University of Tennessee Health Science Center","doi-asserted-by":"publisher","award":["Research fund"],"award-info":[{"award-number":["Research fund"]}],"id":[{"id":"10.13039\/100007271","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"national institutes of health","doi-asserted-by":"publisher","award":["RO1 DE019156"],"award-info":[{"award-number":["RO1 DE019156"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007161","name":"Boston University","doi-asserted-by":"publisher","award":["Research Fund"],"award-info":[{"award-number":["Research Fund"]}],"id":[{"id":"10.13039\/100007161","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:p>\n                    Reprogramming diseased cells with mutated genes into induced pluripotent stem cells (iPSCs) can allow studies of disease mechanism and correct the mutation. Oculofaciocardiodental (OFCD) syndrome is a developmental disorder caused by heterozygous mutations in the X-linked BCL-6 corepressor ( BCOR) gene. In this present study, we aimed to reprogram stem cells from a tooth apical papilla (SCAP) of a patient with OFCD, termed SCAP-O, into iPSCs. The SCAP-O carry a copy of the BCOR gene having 1 nucleotide deletion in 1 of the alleles, therefore harboring a mixture of cells expressing either normal (SCAP-O\n                    <jats:sup>BCOR-WT<\/jats:sup>\n                    ) or mutated (SCAP-O\n                    <jats:sup>BCOR-mut<\/jats:sup>\n                    ) BCOR transcripts. We subcloned SCAP-O and separated SCAP-O\n                    <jats:sup>BCOR-WT<\/jats:sup>\n                    and SCAP-O\n                    <jats:sup>BCOR-mut<\/jats:sup>\n                    as verified by sequencing. The selected subclone SCAP-O\n                    <jats:sup>BCOR-mut<\/jats:sup>\n                    expressed only the mutated BCOR transcripts and remained in such condition after multiple passages. We reprogrammed SCAP-O and subclone SCAP-O\n                    <jats:sup>BCOR-mut<\/jats:sup>\n                    into transgene-free iPSCs using an excisable lentiviral vector system (hSTEMCCA-loxP) carrying 4 reprogramming factors in a single cassette, followed by removal of transgenes via Cre-mediated excision. We found that after reprogramming SCAP-O or subclone SCAP-O\n                    <jats:sup>BCOR-mut<\/jats:sup>\n                    into iPSCs, some of the iPSC clones expressed either solely the normal BCOR-WT or BCOR-mut transcripts, while other clones expressed both BCOR-WT and BCOR-mut transcripts. This is our first step toward establishing OFCD study models by generating isogenic control BCOR-WT iPSCs versus BCOR-mut iPSCs.\n                  <\/jats:p>","DOI":"10.1177\/0022034519890323","type":"journal-article","created":{"date-parts":[[2019,11,27]],"date-time":"2019-11-27T21:14:26Z","timestamp":1574889266000},"page":"196-203","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Expression of Normal or Mutated X-Linked\n                    <i>BCOR<\/i>\n                    Transcripts in OFCD iPSCs"],"prefix":"10.1177","volume":"99","author":[{"given":"I.","family":"El Ayachi","sequence":"first","affiliation":[{"name":"Department of Bioscience Research, College of Dentistry, University of Tennessee Health Science Center, Memphis, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1841-5779","authenticated-orcid":false,"given":"X.-Y.","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Cariology, Endodontology and Operative Dentistry, School and Hospital of Stomatology, Peking University, Beijing, China"},{"name":"Department of Endodontics, Henry M. Goldman School of Dental Medicine, Boston University, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X.","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Endodontics, Henry M. Goldman School of Dental Medicine, Boston University, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Lou","sequence":"additional","affiliation":[{"name":"Department of Bioscience Research, College of Dentistry, University of Tennessee Health Science Center, Memphis, TN, USA"},{"name":"Department of Endodontics, Henry M. Goldman School of Dental Medicine, Boston University, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.T.-J.","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Bioscience Research, College of Dentistry, University of Tennessee Health Science Center, Memphis, TN, USA"},{"name":"Department of Endodontics, Henry M. Goldman School of Dental Medicine, Boston University, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,11,27]]},"reference":[{"key":"bibr1-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1242\/dev.069328"},{"key":"bibr2-0022034519890323","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2012.00024"},{"key":"bibr3-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.01.044"},{"key":"bibr4-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1002\/term.2615"},{"key":"bibr5-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1913"},{"key":"bibr6-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmx015"},{"key":"bibr7-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20444"},{"key":"bibr8-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201391"},{"key":"bibr9-0022034519890323","doi-asserted-by":"publisher","DOI":"10.3858\/emm.2012.44.3.015"},{"key":"bibr10-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-7471-9_2"},{"key":"bibr11-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2466"},{"key":"bibr12-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30811"},{"key":"bibr13-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38128"},{"key":"bibr14-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.07.041"},{"key":"bibr15-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2009.0314"},{"key":"bibr16-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1126\/science.1151526"},{"key":"bibr17-0022034519890323","doi-asserted-by":"publisher","DOI":"10.1186\/scrt134"}],"container-title":["Journal of Dental Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034519890323","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0022034519890323","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034519890323","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:08:22Z","timestamp":1777496902000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0022034519890323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,27]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1177\/0022034519890323"],"URL":"https:\/\/doi.org\/10.1177\/0022034519890323","relation":{},"ISSN":["0022-0345","1544-0591"],"issn-type":[{"value":"0022-0345","type":"print"},{"value":"1544-0591","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,27]]}}}