{"id":15624,"date":"2022-06-21T11:23:14","date_gmt":"2022-06-21T04:23:14","guid":{"rendered":"https:\/\/bgrssb.icgbio.ru\/2022\/?p=15624"},"modified":"2022-09-20T10:32:56","modified_gmt":"2022-09-20T03:32:56","slug":"pluripotent-stem-cell-lines-from-two-patients-with-coh1-gene-mutations-as-the-valuable-in-vitro-model-of-cohen-syndrome","status":"publish","type":"post","link":"https:\/\/bgrssb.icgbio.ru\/2022\/2022\/06\/21\/pluripotent-stem-cell-lines-from-two-patients-with-coh1-gene-mutations-as-the-valuable-in-vitro-model-of-cohen-syndrome\/","title":{"rendered":"Pluripotent stem cell lines from two patients with COH1 gene mutations as the valuable in vitro model of Cohen Syndrome"},"content":{"rendered":"<p><em>by Pristyazhnyuk Inna | Shnaider Tatyana | Khabarova Anna | Morozova Kseniya | Kiseleva Elena |<\/em><br \/>\n<em>Vladimirova Elena | Chechetkina Sophia | Chvileva Anastasia | Smirnova Anna | Larina D. | Institute of<\/em><br \/>\n<em>Cytology and Genetics, SB RAS, Novosibirsk, Russia | Institute of Cytology and Genetics, SB RAS,<\/em><br \/>\n<em>Novosibirsk, Russia | Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia | Institute of<\/em><br \/>\n<em>Cytology and Genetics, SB RAS, Novosibirsk, Russia | Institute of Cytology and Genetics, SB RAS,<\/em><br \/>\n<em>Novosibirsk, Russia | Novosibirsk State University, Novosibirsk, Russia | Novosibirsk State University,<\/em><br \/>\n<em>Novosibirsk, Russia | Novosibirsk State University, Novosibirsk, Russia | Laboratory of clinical genomics<\/em><br \/>\n<em>and bioinformatics, Research and Clinical Institute for Pediatrics named after Academician Yuri<\/em><br \/>\n<em>Veltischev, Moscow | Laboratory of clinical genomics and bioinformatics, Research and Clinical Institute<\/em><br \/>\n<em>for Pediatrics named after Academician Yuri Veltischev, Moscow<\/em><\/p>\n<p>Cohen&#8217;s syndrome (CS) is an autosomal recessive disorder caused by mutations in the COH1<br \/>\n(VPS13B) gene. CS is characterized by growth and mental retardation, microcephaly, and<br \/>\nthe development of autism spectrum disorders.<br \/>\nThe COH1 protein is one of the key participants of the intracellular membrane transport<br \/>\nsystem, the central part of which is the Golgi apparatus (GA). Recent studies have shown<br \/>\nthat mutations affecting GA proteins also result in the postnatal microcephaly associated<br \/>\ndiseases. GA is extremely important for the differentiation and functioning of postmitotic<br \/>\nneurons. It plays a major role in determining and creating the cellular polarity necessary for<br \/>\nthe formation of highly specialized neurites \u2013 axons and dendrites.<br \/>\nThe product of the COH1 gene is a peripheral membrane protein localized in GA and<br \/>\ncontributes to the structural maintenance and functioning of this complex. The supposed<br \/>\nfunction of the COH1 protein is the regulation of vesicular transport and intracellular<br \/>\nprotein sorting.<br \/>\nWe have obtained the iPSC cell lines from the biopsy material of two patients with<br \/>\ncompound heterozygous mutations in the COH1 gene. The iPSC lines from both patients<br \/>\nhave morphology of pluripotent cell, normal karyotype (46,XX), express pluripotency<br \/>\nmarkers (OCT4, NANOG), and surface markers SSEA-1 and TRA-1-60. During differentiation<br \/>\nin embryoid bodies, they contribute to three germ layers (ectoderm, mesoderm, and<br \/>\nendoderm). These iPSC lines will serve as the basis for studying the pathology of cortical<br \/>\nneurons formation in CS patients.<br \/>\nThere using will allow us to study the later stages of neurogenesis, in particular neuritogenesis, axons and dendrites formation, as well as the features of the structural<br \/>\norganization of the GA and vesicular transport in the cell. By studying the effect of<br \/>\nmutations in the COH1 gene that cause CS, we will be able to establish the role of this gene<br \/>\nin the process of normal human neurogenesis<\/p>\n<a href=\"https:\/\/bgrssb.icgbio.ru\/2022\/wp-content\/uploads\/sites\/3\/2022\/06\/Poster-COH1.pdf\" class=\"pdfemb-viewer\" style=\"\" data-width=\"max\" data-height=\"max\"  data-toolbar=\"bottom\" data-toolbar-fixed=\"off\">Poster-COH1<br\/><\/a>\n","protected":false},"excerpt":{"rendered":"<p>by Pristyazhnyuk Inna | Shnaider Tatyana | Khabarova Anna | Morozova Kseniya | Kiseleva Elena | Vladimirova Elena | Chechetkina Sophia | Chvileva Anastasia | Smirnova Anna | Larina D. | Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia | Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia | Institute of Cytology and [&hellip;]<\/p>\n","protected":false},"author":3967,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[12],"tags":[80,76,77,78,81,82,83,79],"_links":{"self":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/posts\/15624"}],"collection":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/users\/3967"}],"replies":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/comments?post=15624"}],"version-history":[{"count":1,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/posts\/15624\/revisions"}],"predecessor-version":[{"id":15626,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/posts\/15624\/revisions\/15626"}],"wp:attachment":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/media?parent=15624"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/categories?post=15624"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/wp-json\/wp\/v2\/tags?post=15624"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}