{"id":538,"date":"2020-09-18T09:09:10","date_gmt":"2020-09-18T12:09:10","guid":{"rendered":"http:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/?p=538"},"modified":"2020-12-02T18:17:02","modified_gmt":"2020-12-02T21:17:02","slug":"wilsons-disease","status":"publish","type":"post","link":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wilsons-disease\/","title":{"rendered":"Wilson\u2019s disease"},"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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Wilson’s disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson’s disease is caused by mutations in the ATP7B<\/em> gene. Over 300 mutations of ATP7B<\/em> have been described. Despite the disease is autosomal recessive, the patient whose PBMCs were reprogrammed in the study harbours heterozygous mutation c.3207C>A (p.H1069Q). Detailed analysis of the ATP7B<\/em> complete gene sequencing data has not revealed other known disease associated mutation. The generated iPSC lines maintained the original genotype, expressed pluripotency markers, had normal karyotype and demonstrated the ability to differentiate into derivatives of the three germ layers. The patient-specific iPSC lines are useful for modelling the disease in vitro and searching for modifier genes that cause the phenotypic heterogeneity. Studying pathogenetic copper metabolism pathways in hepatocyte-like cells derived from the iPSCs is helpful for discovering targeted therapy of the chronic progressive disease.<\/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 the ICGi020-A and ICGi020-B iPSC lines. A. Morphology of iPSC colony and alkaline phosphatase staining. B. Immunofluorescence staining for pluripotency markers SSEA-4, NANOG, TRA-1-60 and OCT4. C. Quantitative analysis of pluripotency marker expression (NANOG, OCT4, SOX2) by qPCR. D. Detection of the c.3207C > A mutation by Sanger sequencing. E. Elimination of the episomal reprogramming vectors was confirmed by PCR. F. ICGi0120-A and ICGi020-B cells are free of mycoplasma contamination. G. Immunofluorescence staining for differentiation markers: NF200 and TUBB3 (ectoderm); aSMA (mesoderm); HNF3b and CK-18 (endoderm).<\/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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Wilson’s disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson’s disease is caused by mutations in the ATP7B<\/em> gene. Over 300 mutations of ATP7B<\/em> have been described. Despite the disease is autosomal recessive, the patient whose PBMCs were reprogrammed in the study harbours heterozygous mutation c.3207C>A (p.H1069Q). Detailed analysis of the ATP7B<\/em> complete gene sequencing data has not revealed other known disease associated mutation. The generated iPSC lines maintained the original genotype, expressed pluripotency markers, had normal karyotype and demonstrated the ability to differentiate into derivatives of the three germ layers. The patient-specific iPSC lines are useful for modelling the disease in vitro and searching for modifier genes that cause the phenotypic heterogeneity. Studying pathogenetic copper metabolism pathways in hepatocyte-like cells derived from the iPSCs is helpful for discovering targeted therapy of the chronic progressive disease.<\/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":"

Wilson’s disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson’s disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been described. Despite the disease is autosomal recessive, the patient whose PBMCs were reprogrammed in the study harbours heterozygous mutation c.3207C>A […]<\/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":[59,61],"_links":{"self":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/538"}],"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=538"}],"version-history":[{"count":45,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/538\/revisions"}],"predecessor-version":[{"id":1810,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/538\/revisions\/1810"}],"wp:attachment":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/media?parent=538"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/categories?post=538"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/tags?post=538"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}