{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T04:40:10Z","timestamp":1794285610702,"version":"4.9.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,17]],"date-time":"2013-07-17T00:00:00Z","timestamp":1374019200000},"content-version":"vor","delay-in-days":442,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cell Stem Cell"],"published-print":{"date-parts":[[2012,5]]},"DOI":"10.1016\/j.stem.2012.02.014","type":"journal-article","created":{"date-parts":[[2012,5,3]],"date-time":"2012-05-03T12:01:10Z","timestamp":1336046470000},"page":"595-609","source":"Crossref","is-referenced-by-count":350,"title":["Erosion of Dosage Compensation Impacts Human iPSC Disease Modeling"],"prefix":"10.1016","volume":"10","author":[{"given":"Shila","family":"Mekhoubad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Bock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u00a0Sophie","family":"de\u00a0Boer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelos","family":"Kiskinis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Meissner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Eggan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.stem.2012.02.014_bib1","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nbt1285","article-title":"Adaptation to culture of human embryonic stem cells and oncogenesis in\u00a0vivo","volume":"25","author":"Baker","year":"2007","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.stem.2012.02.014_bib2","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/0149-7634(85)90043-0","article-title":"The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome","volume":"9","author":"Baumeister","year":"1985","journal-title":"Neurosci. Biobehav. Rev."},{"key":"10.1016\/j.stem.2012.02.014_bib3","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.cell.2010.12.032","article-title":"Reference maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines","volume":"144","author":"Bock","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.stem.2012.02.014_bib4","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/nbt.1783","article-title":"A functionally characterized test set of human induced pluripotent stem cells","volume":"29","author":"Boulting","year":"2011","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.stem.2012.02.014_bib5","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/368154a0","article-title":"The human X-inactivation centre is not required for maintenance of X-chromosome inactivation","volume":"368","author":"Brown","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.stem.2012.02.014_bib6","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/nature03479","article-title":"X-inactivation profile reveals extensive variability in X-linked gene expression in females","volume":"434","author":"Carrel","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.stem.2012.02.014_bib7","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1093\/hmg\/ddr093","article-title":"Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation","volume":"20","author":"Cheung","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.stem.2012.02.014_bib8","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.stem.2009.06.008","article-title":"Induced pluripotent stem cells and embryonic stem cells are distinguished by gene expression signatures","volume":"5","author":"Chin","year":"2009","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.stem.2012.02.014_bib9","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/sj.ejhg.5201994","article-title":"XLMR genes: update 2007","volume":"16","author":"Chiurazzi","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.stem.2012.02.014_bib10","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1093\/hmg\/ddq072","article-title":"Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects","volume":"19","author":"Cristini","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.stem.2012.02.014_bib11","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1083\/jcb.153.4.773","article-title":"Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining X chromosome inactivation","volume":"153","author":"Csankovszki","year":"2001","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.stem.2012.02.014_bib12","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1126\/science.1158799","article-title":"Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons","volume":"321","author":"Dimos","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.stem.2012.02.014_bib13","doi-asserted-by":"crossref","first-page":"e11330","DOI":"10.1371\/journal.pone.0011330","article-title":"Variations of X chromosome inactivation occur in early passages of female human embryonic stem cells","volume":"5","author":"Dvash","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.stem.2012.02.014_bib14","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/hmg\/5.10.1607","article-title":"HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome","volume":"5","author":"Engle","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.stem.2012.02.014_bib15","doi-asserted-by":"crossref","first-page":"3129","DOI":"10.1093\/hmg\/ddi345","article-title":"Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells","volume":"14","author":"Enver","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.stem.2012.02.014_bib16","doi-asserted-by":"crossref","DOI":"10.1002\/9780470151808.sc01b06s12","article-title":"Characterization of X-chromosome inactivation status in human pluripotent stem cells","author":"Erwin","year":"2010","journal-title":"Current protocols in stem cell biology"},{"key":"10.1016\/j.stem.2012.02.014_bib17","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0022-510X(88)90099-8","article-title":"Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome","volume":"86","author":"Finger","year":"1988","journal-title":"J.\u00a0Neurol. Sci."},{"key":"10.1016\/j.stem.2012.02.014_bib18","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/nature09805","article-title":"Somatic coding mutations in human induced pluripotent stem cells","volume":"471","author":"Gore","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.stem.2012.02.014_bib19","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/mt.2009.178","article-title":"Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis","volume":"18","author":"Guibinga","year":"2010","journal-title":"Mol. Ther."},{"key":"10.1016\/j.stem.2012.02.014_bib20","doi-asserted-by":"crossref","first-page":"9222","DOI":"10.1073\/pnas.1004584107","article-title":"Human embryonic stem cells with biological and epigenetic characteristics similar to those of mouse ESCs","volume":"107","author":"Hanna","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2012.02.014_bib21","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1242\/dmm.002543","article-title":"Lesch-Nyhan disease: from mechanism to model and back again","volume":"2","author":"Jinnah","year":"2009","journal-title":"Dis Model Mech"},{"key":"10.1016\/j.stem.2012.02.014_bib22","doi-asserted-by":"crossref","first-page":"14169","DOI":"10.1073\/pnas.1018979108","article-title":"Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome","volume":"108","author":"Kim","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2012.02.014_bib23","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1016\/j.cell.2010.04.010","article-title":"Derivation of pre-X inactivation human embryonic stem cells under physiological oxygen concentrations","volume":"141","author":"Lengner","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.stem.2012.02.014_bib24","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.cell.2010.10.016","article-title":"A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells","volume":"143","author":"Marchetto","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.stem.2012.02.014_bib25","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1126\/science.171.3972.689","article-title":"Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme","volume":"171","author":"McDonald","year":"1971","journal-title":"Science"},{"key":"10.1016\/j.stem.2012.02.014_bib26","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1016\/j.stem.2012.02.013","article-title":"Recurrent variations in DNA methylation in human pluripotent stem cells and their differentiated derivatives","volume":"10","author":"Nazor","year":"2012","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.stem.2012.02.014_bib27","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.stem.2011.06.004","article-title":"Unexpected X chromosome skewing during culture and reprogramming of human somatic cells can be alleviated by exogenous telomerase","volume":"9","author":"Pomp","year":"2011","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.stem.2012.02.014_bib28","doi-asserted-by":"crossref","first-page":"4709","DOI":"10.1073\/pnas.0712018105","article-title":"X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations","volume":"105","author":"Shen","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2012.02.014_bib29","doi-asserted-by":"crossref","first-page":"4820","DOI":"10.1073\/pnas.0712136105","article-title":"X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells","volume":"105","author":"Silva","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2012.02.014_bib30","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of pluripotent stem cells from adult human fibroblasts by defined factors","volume":"131","author":"Takahashi","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.stem.2012.02.014_bib31","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.stem.2010.06.024","article-title":"Female human iPSCs retain an inactive X chromosome","volume":"7","author":"Tchieu","year":"2010","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.stem.2012.02.014_bib32","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/S0165-0173(99)00094-6","article-title":"Lesch-Nyhan disease and the basal ganglia","volume":"32","author":"Visser","year":"2000","journal-title":"Brain Res. Brain Res. Rev."}],"container-title":["Cell Stem Cell"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1934590912000732?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1934590912000732?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T13:01:06Z","timestamp":1542978066000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1934590912000732"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5]]},"references-count":32,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["S1934590912000732"],"URL":"https:\/\/doi.org\/10.1016\/j.stem.2012.02.014","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.717047827.792352843","asserted-by":"object"}]},"ISSN":["1934-5909"],"issn-type":[{"value":"1934-5909","type":"print"}],"subject":[],"published":{"date-parts":[[2012,5]]}}}