{"id":533,"date":"2020-09-18T09:06:36","date_gmt":"2020-09-18T12:06:36","guid":{"rendered":"http:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/?p=533"},"modified":"2020-12-02T18:15:56","modified_gmt":"2020-12-02T21:15:56","slug":"long-qt-syndrome","status":"publish","type":"post","link":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/long-qt-syndrome\/","title":{"rendered":"Long QT syndrome"},"content":{"rendered":"\t\t
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Long QT syndrome (LQTS) is an arrhythmic disease leading to an increased risk of ventricular tachycardia and sudden death. The congenital form of the syndrome is caused by mutations in proteins involved in cardiomyocyte ionic channel functioning. Using cardiomyocytes derived from patient-specific iPSCs is the most promising approach to study LQTS molecular mechanisms and to search for effective therapy methods. Using episomal vectors, we generated iPSC lines from fibroblasts of two LQTS patients carrying p.V254M mutation in KCNQ1<\/em> and p.T613M mutation in KCNH2<\/em>. The iPSC lines can be used for modeling long QT syndrome types 1 and 2 that are the most common forms of the congenital LQTS.<\/p>\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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Characterization of an iPSC line derived from a long QT syndrome patient carrying p.T613M mutation in KCNH2. A. Morphology of the iPSC colonies (Scale bar \u2013 200 \u03bcm). B. Immunofluorescent staining for pluripotency markers NANOG, OCT4, TRA-1-60, SSEA4 (Scale bar \u2013 100 \u03bcm). C. Immunofluorescent staining for differentiation markers, NF200 (ectoderm), \u03b1SMA (mesoderm), HNF4\u03b1 (endoderm), after spontaneous in vitro differentiation of the iPSC line (Scale bar \u2013 100 \u03bcm). D. Mutation analysis. Sanger sequencing of exon 7 of KCNH2 in the iPSC lines and healthy donor. Heterozygous p.T613M (c.1838C>T) mutation is indicated by a black arrow.<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t
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Long QT syndrome (LQTS) is an arrhythmic disease leading to an increased risk of ventricular tachycardia and sudden death. The congenital form of the syndrome is caused by mutations in proteins involved in cardiomyocyte ionic channel functioning. Using cardiomyocytes derived from patient-specific iPSCs is the most promising approach to study LQTS molecular mechanisms and to search for effective therapy methods. Using episomal vectors, we generated iPSC lines from fibroblasts of two LQTS patients carrying p.V254M mutation in KCNQ1<\/em> and p.T613M mutation in KCNH2<\/em>. The iPSC lines can be used for modeling long QT syndrome types 1 and 2 that are the most common forms of the congenital LQTS.<\/p>\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

Long QT syndrome (LQTS) is an arrhythmic disease leading to an increased risk of ventricular tachycardia and sudden death. The congenital form of the syndrome is caused by mutations in proteins involved in cardiomyocyte ionic channel functioning. Using cardiomyocytes derived from patient-specific iPSCs is the most promising approach to study LQTS molecular mechanisms and to […]<\/p>\n","protected":false},"author":31,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"elementor_header_footer","format":"standard","meta":[],"categories":[2],"tags":[59,60],"_links":{"self":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/533"}],"collection":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/users\/31"}],"replies":[{"embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/comments?post=533"}],"version-history":[{"count":15,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/533\/revisions"}],"predecessor-version":[{"id":1809,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/533\/revisions\/1809"}],"wp:attachment":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/media?parent=533"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/categories?post=533"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/tags?post=533"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}