<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<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">10.25557/2073-7998.2020.03.12-13</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-812</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>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Моделирование динамического мозаицизма по кольцевым хромосомам в фибробластах и ИПСК человека</article-title><trans-title-group xml:lang="en"><trans-title>Modeling of dynamic mosaicism on ring chromosomes in human fibroblasts and IPSCS</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>Никитина</surname><given-names>Т. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Nikitina</surname><given-names>T. V.</given-names></name></name-alternatives><email xlink:type="simple">t.nikitina@medgenetics.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кашеварова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kashevarova</surname><given-names>A. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гридина</surname><given-names>М. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Gridina</surname><given-names>M. M.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хабарова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Khabarova</surname><given-names>A. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мензоров</surname><given-names>А. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Menzorov</surname><given-names>A. G.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Яковлева</surname><given-names>Ю. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Yakovleva</surname><given-names>Yu. S.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Васильев</surname><given-names>С. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Vasilyev</surname><given-names>S. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пристяжнюк</surname><given-names>И. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Pristyazhnyuk</surname><given-names>I. E.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Минина</surname><given-names>Ю. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Minina</surname><given-names>Yu. M.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Распопова</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Raspopova</surname><given-names>M. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дериглазов</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Deriglazov</surname><given-names>D. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Серов</surname><given-names>О. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Serov</surname><given-names>O. L.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лебедев</surname><given-names>И. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Lebedev</surname><given-names>I. N.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Научно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр РАН, Томск</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Medical Genetics, Tomsk NRMC</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФИЦ Институт цитологии и генетики СО РАН</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Cytology and Genetics, SB RAS</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФИЦ Институт цитологии и генетики СО РАН; Новосибирский государственный университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Cytology and Genetics, SB RAS</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Научно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр РАН, Томск; Сибирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Medical Genetics, Tomsk NRMC</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>Сибирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Siberian State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>01</day><month>09</month><year>2020</year></pub-date><volume>19</volume><issue>3</issue><fpage>12</fpage><lpage>13</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Никитина Т.В., Кашеварова А.А., Гридина М.М., Хабарова А.А., Мензоров А.Г., Яковлева Ю.С., Васильев С.А., Пристяжнюк И.Е., Минина Ю.М., Распопова М.А., Дериглазов Д.А., Серов О.Л., Лебедев И.Н., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Никитина Т.В., Кашеварова А.А., Гридина М.М., Хабарова А.А., Мензоров А.Г., Яковлева Ю.С., Васильев С.А., Пристяжнюк И.Е., Минина Ю.М., Распопова М.А., Дериглазов Д.А., Серов О.Л., Лебедев И.Н.</copyright-holder><copyright-holder xml:lang="en">Nikitina T.V., Kashevarova A.A., Gridina M.M., Khabarova A.A., Menzorov A.G., Yakovleva Y.S., Vasilyev S.A., Pristyazhnyuk I.E., Minina Y.M., Raspopova M.A., Deriglazov D.A., Serov O.L., Lebedev I.N.</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/812">https://www.medgen-journal.ru/jour/article/view/812</self-uri><abstract><p>Митотическая нестабильность кольцевых хромосом может приводить к появлению клеточных клонов с различной генетической структурой. В качестве модели нестабильности кольцевых хромосом в митозе мы использовали фибробласты от пациентов с r(8), r(13), r(18) и r(22) и полученные из них индуцированные плюрипотентные стволовые клетки (ИПСК). Линии ИПСК с r(22) имели относительно стабильный кариотип на протяжении десятков (до 60) пассажей и сохраняли неизменную структуру кольцевой хромосомы. Кариотип линий ИПСК с r(8) и r(18) на ранних пассажах стабильный, планируется его изучение на поздних пассажах. Наибольшее разнообразие кариотипа выявлено в линиях ИПСК с r(13), в которых наблюдали различные перестройки и выраженную клеточную гетерогенность. Определение факторов, влияющих на митотическую стабильность кольцевых хромосом, может иметь значение для консультирования пациентов.</p></abstract><trans-abstract xml:lang="en"><p>Mitotic instability of ring chromosomes can lead to the appearance of cell clones with different genetic structure. IPSCs from fibroblasts of patients with r(8), r(13), r(18), and r(22) were used as a model of ring chromosomes mitotic behavior. Karyotypes of iPSC lines with r(8) and r(18) have so far been evaluated only in the early passages, lines with r(22) have maintained a relatively stable karyotype up to 60 passages. The occurrence of rearrangements and cellular heterogeneity was found characteristic for r(13) iPSCs. The determination of factors affecting the ring chromosomes mitotic stability would be beneficial for the patient’s prognosis.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>кольцевые хромосомы</kwd><kwd>ИПСК</kwd><kwd>мозаицизм</kwd><kwd>ring chromosome</kwd><kwd>iPSC</kwd><kwd>mosaicism</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
