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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2023.12.59-66</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2388</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL RESEARCH</subject></subj-group></article-categories><title-group><article-title>Аномалии кариотипа в линиях индуцированных плюрипотентных стволовых клеток, полученных от российских доноров</article-title><trans-title-group xml:lang="en"><trans-title>Karyotype abnormalities in induced pluripotent stem cells derived from Russian donors</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пожитнова</surname><given-names>В. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Pozhitnova</surname><given-names>V. O.</given-names></name></name-alternatives><bio xml:lang="ru"><p>115522, г. Москва, ул. Москворечье, д. 1</p></bio><bio xml:lang="en"><p>1, Moskvorechie st., Moscow, 115478</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Свиридова</surname><given-names>В. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Sviridova</surname><given-names>V. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>115522, г. Москва, ул. Москворечье, д. 1</p></bio><bio xml:lang="en"><p>1, Moskvorechie st., Moscow, 115478</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кислова</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kislova</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>115522, г. Москва, ул. Москворечье, д. 1</p></bio><bio xml:lang="en"><p>1, Moskvorechie st., Moscow, 115478</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Свиридов</surname><given-names>Ф. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Sviridov</surname><given-names>P. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>115522, г. Москва, ул. Москворечье, д. 1</p></bio><bio xml:lang="en"><p>1, Moskvorechie st., Moscow, 115478</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Жегло</surname><given-names>Д. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Zheglo</surname><given-names>D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>115522, г. Москва, ул. Москворечье, д. 1</p></bio><bio xml:lang="en"><p>1, Moskvorechie st., Moscow, 115478</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Воронина</surname><given-names>Е. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Voronina</surname><given-names>E. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>115522, г. Москва, ул. Москворечье, д. 1</p></bio><bio xml:lang="en"><p>1, Moskvorechie st., Moscow, 115478</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>23</day><month>12</month><year>2023</year></pub-date><volume>22</volume><issue>12</issue><fpage>59</fpage><lpage>66</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Пожитнова В.О., Свиридова В.В., Кислова А.В., Свиридов Ф.С., Жегло Д.Г., Воронина Е.С., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Пожитнова В.О., Свиридова В.В., Кислова А.В., Свиридов Ф.С., Жегло Д.Г., Воронина Е.С.</copyright-holder><copyright-holder xml:lang="en">Pozhitnova V.O., Sviridova V.V., Kislova A.V., Sviridov P.S., Zheglo D., Voronina E.S.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/2388">https://www.medgen-journal.ru/jour/article/view/2388</self-uri><abstract><sec><title>Введение. Кариотипирование индуцированных плюрипотентных стволовых клеток (иПСК) − общепринятый этап характеристики генетической стабильности клеточных линий, необходимый при их регистрации и дальнейшем научном и медицинском использовании. Для текущего мониторинга возникновения рекуррентных аномалий кариотипа допустимо применение таргетных методов анализа (FISH, количественная ПЦР), однако спектр возникающих хромосомных аберраций может зависеть от особенностей протоколов культивирования клеток, принятых в конкретных лабораториях.</title></sec><sec><title>Цель: выявление аномалий кариотипа в выборке линий иПСК, полученных от российских доноров, методом стандартного цитогенетического анализа и сравнение их с известными из литературных данных рекуррентными аберрациями.</title></sec><sec><title>Методы. Кариотипирование культур иПСК проводили на 7-28 пассаже. Для уточнения частоты трисомии, выявленной при анализе кариотипа, в отдельных случаях применяли FISH с центромерными зондами. Проанализированы кариотипы 34 линий иПСК, полученных от 19 доноров.</title></sec><sec><title>Результаты. Выявлены две линии с численными хромосомными аномалиями (+8 и +20), три линии с крупными структурными хромосомными перестройками (дупликация в 2q и две дупликации в 1q) и одна линия со спонтанными неклональными хроматидными разрывами. Дополнительный FISH-анализ с центромерными зондами линии с мозаичной трисомией 8 и аутологичной ей линии с нормальным кариотипом выявил присутствие низкопредставленного аномального клона в обеих линиях. Таким образом, частота возникновения хромосомной нестабильности в проанализированной выборке линий иПСК соответствует литературным данным. Хромосомные аберрации в двух из семи аномальных линиях не описаны как частые рекуррентные генетические аномалии в иПСК, используемые для таргетных методов контроля генетической стабильности клеток. </title></sec><sec><title>Заключение. Наше исследование дает представление о частоте и структуре аномалий кариотипа в иПСК, полученных от российских доноров, и обосновывает рациональность комбинирования полногеномных и таргетных методов оценки генетической стабильности этих клеток. Представленные данные могут быть использованы для разработки рекомендаций по оценке качества культур иПСК.</title></sec></abstract><trans-abstract xml:lang="en"><p>Background. Karyotyping of induced pluripotent stem cells (iPSCs) is a generally accepted stage of characterization of the genetic stability of cell lines, necessary for their registration and further scientific and medical use. Recurrent karyotype anomalies can be also detected by targeted methods (FISH, qPCR), however, the laboratory-specific peculiarities of cell handling protocols can influence the pattern of aberrations.Aim. Identification of karyotype abnormalities in iPSC lines obtained from Russian donors and their comparison with recurrent aberrations known from literature data.Methods. Karyotyping of iPSC cultures was carried out on passage 7-28, FISH with centromeric probes was used in specific cases to clarify the frequency of trisomy detected during karyotype analysis.Results. We analyzed karyotypes of 34 iPSC lines obtained from 19 donors. Two lines with numerical chromosomal abnormalities (+8 and +20), three lines with large structural chromosomal rearrangements (duplication in 2q and two duplications in 1q) and one line with spontaneous non-clonal chromatid breaks were revealed. Additional FISH analysis with centromeric probes of a line with mosaic trisomy 8 and an autologous line with a normal karyotype revealed the presence of an abnormal clone in both lines. Thus, the frequency of karyotype abnormalities in the analyzed iPSC lines corresponds to the literature data. Chromosomal aberrations in two of the seven abnormal lines are not described as frequent recurrent genetic anomalies in iPSCs used for targeted methods for monitoring the genetic stability of cells.Conclusions. Our study clarifies the frequency and structure of karyotype anomalies in iPSCs obtained from Russian donors and substantiates the rationality of combining genome-wide and targeted methods for assessing the genetic stability of these cells. The presented data can be used to develop recommendations for assessing the quality of iPSC.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>индуцированные плюрипотентные стволовые клетки</kwd><kwd>кариотип</kwd><kwd>хромосомные аберрации</kwd><kwd>геномная нестабильность</kwd></kwd-group><kwd-group xml:lang="en"><kwd>induced pluripotent stem cells</kwd><kwd>karyotype</kwd><kwd>chromosomal aberrations</kwd><kwd>genome instability</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Andrews P.W., Barbaric I., Benvenisty N., Draper J.S., Ludwig T., Merkle F.T., et al. The consequences of recurrent genetic and epigenetic variants in human pluripotent stem cells. Cell Stem Cell. 2022;29:1624–36.</mixed-citation><mixed-citation xml:lang="en">Andrews P.W., Barbaric I., Benvenisty N., Draper J.S., Ludwig T., Merkle F.T., et al. 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