{"id":542,"date":"2020-09-18T09:12:33","date_gmt":"2020-09-18T12:12:33","guid":{"rendered":"http:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/?p=542"},"modified":"2020-12-02T18:17:44","modified_gmt":"2020-12-02T21:17:44","slug":"duchenne-muscular-atrophy","status":"publish","type":"post","link":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/duchenne-muscular-atrophy\/","title":{"rendered":"Duchenne muscular atrophy"},"content":{"rendered":"\t\t
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<\/div>\n\t\t<\/div>\n\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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Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males. A complete loss of dystrophin resulted from out-of-frame deletion mutations in the DMD<\/em> gene leads to Duchenne muscular dystrophy. DMD induced pluripotent stem cells (iPSCs) are a suitable cell model to study muscle development and disease mechanisms underlying muscular dystrophy and to screen novel compounds with potential therapeutic effects. We generated iPSCs from a DMD patient with mutation c.2950-1G>C in the 3\u02b9 splice acceptor site of 22 intron of the DMD<\/em> gene using non-integrating episomal plasmid vectors. The obtained iPSC lines showed ESC-like morphology, expression pluripotency markers, displayed a normal karyotype and possessed trilineage differentiation potential.<\/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 ICGi002-A, ICGi002-B and ICGi002-C iPSC lines. A - Phase contrast microscopy. B - Immunofluorescent staining of pluripotency markers: OCT-3\/4, NANOG, SSEA-4, TRA-1-60. C - Immunofluorescent staining of germ layer markers: AFP (endoderm), SMA (mesoderm), NF-200 (ectoderm). D - Karyotype (G-banding). E - Expression of pluripotency markers: OCT4, SOX2, LIN28 determined by RT-qPCR. F \u2013 Determination the loss of the episomal vectors by PCR. G \u2013 Mycoplasma testing by PCR. H - Sanger sequencing to confirm mutation c.2950-1G>C in the 3\u02b9 splice acceptor site of 22 intron of the DMD gene.<\/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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Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males. A complete loss of dystrophin resulted from out-of-frame deletion mutations in the DMD<\/em> gene leads to Duchenne muscular dystrophy. DMD induced pluripotent stem cells (iPSCs) are a suitable cell model to study muscle development and disease mechanisms underlying muscular dystrophy and to screen novel compounds with potential therapeutic effects. We generated iPSCs from a DMD patient with mutation c.2950-1G>C in the 3\u02b9 splice acceptor site of 22 intron of the DMD<\/em> gene using non-integrating episomal plasmid vectors. The obtained iPSC lines showed ESC-like morphology, expression pluripotency markers, displayed a normal karyotype and possessed trilineage differentiation potential.<\/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":"

Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males. A complete loss of dystrophin resulted from out-of-frame deletion mutations in the DMD gene leads to Duchenne muscular dystrophy. DMD induced pluripotent stem cells (iPSCs) are a suitable cell model to study muscle development […]<\/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":[59,63],"_links":{"self":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/542"}],"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=542"}],"version-history":[{"count":17,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/542\/revisions"}],"predecessor-version":[{"id":1811,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/542\/revisions\/1811"}],"wp:attachment":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/media?parent=542"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/categories?post=542"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/tags?post=542"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}