{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:59:06Z","timestamp":1791230346288,"version":"4.1.0"},"reference-count":39,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2025,8,10]],"date-time":"2025-08-10T00:00:00Z","timestamp":1754784000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Genome instability in induced pluripotent stem cells (IPSC) poses a significant challenge for their use in research and medicine. Cataloging and precisely describing all the identified aberrations that arise during cell reprogramming, expansion, and differentiation is essential for improving approaches to instability prevention and ensuring genetic quality control. We report the karyotypic analysis of 65 cell lines derived from skin fibroblasts, urinal sediment, and peripheral blood mononuclear cells of 33 individuals, 82% of whom suffer from monogenic genetic disorders not associated with genetic instability. Trisomy of chromosomes 20 and 8 was revealed recurrently, while the 1q arm was the most frequently affected region involved in interstitial duplications and unbalanced translocations with chromosomes 15 and 18. The localization of rearrangement breakpoints identified by SNP arrays within the large DCC gene and histone gene clusters links genetic instability in IPSCs to replication-stress-induced chromosome breakage at common and early replicating fragile sites.<\/jats:p>","DOI":"10.3390\/ijms26167728","type":"journal-article","created":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T11:02:09Z","timestamp":1754910129000},"page":"7728","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Chromosomal Aberrations in Induced Pluripotent Stem Cells: Identification of Breakpoints in the Large DCC Gene and HIST2 Histone Gene Cluster"],"prefix":"10.3390","volume":"26","author":[{"given":"Diana","family":"Zheglo","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8286-7924","authenticated-orcid":false,"given":"Victoria O.","family":"Pozhitnova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0280-8951","authenticated-orcid":false,"given":"Anastasiia V.","family":"Kislova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2941-2861","authenticated-orcid":false,"given":"Zhanna G.","family":"Markova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0752-6916","authenticated-orcid":false,"given":"Danila","family":"Kiselev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp S.","family":"Sviridov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Sviridova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyajsan I.","family":"Gumerova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Smirnikhina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9698-0634","authenticated-orcid":false,"given":"Almaqdad","family":"Alsalloum","sequence":"additional","affiliation":[{"name":"Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Baltiyskaya St. 8, Moscow 125315, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4920-2143","authenticated-orcid":false,"given":"Svetlana V.","family":"Pylina","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey Ivanovich","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5789-0927","authenticated-orcid":false,"given":"Ekaterina Sergeevna","family":"Voronina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechie 1, Moscow 115478, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1007\/s12015-024-10776-6","article-title":"Progesterone receptor is constitutively expressed in induced Pluripotent Stem Cells (iPSCs)","volume":"20","author":"Manganelli","year":"2024","journal-title":"Stem Cell Rev. 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