{"id":1708,"date":"2022-02-20T15:52:44","date_gmt":"2022-02-20T15:52:44","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1708"},"modified":"2026-02-23T01:03:41","modified_gmt":"2026-02-23T01:03:41","slug":"patient-derived-cellular-models-of-primary-ciliopathies","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/20\/patient-derived-cellular-models-of-primary-ciliopathies\/","title":{"rendered":"Patient-derived cellular models of primary ciliopathies (Contributed by Dr. Virginie Sottile)"},"content":{"rendered":"<p>Pluripotent stem cells generated from patient samples are increasingly employed to explore disease mechanisms in the lab and test novel therapeutic strategies. Stem cells derived from patients can be cultivated in vitro to produce aggregates of cells that mimic the basic architecture of specific organs in 3D. For patients affected from complex genetic diseases such as primary ciliopathies (characterised by defects in major organs including brain, kidney, eye, liver and skeleton), this new approach offers the unique opportunity to understand how a patient\u2019s specific mutation can lead to disease in a way that considers the unique genetic background of each patient. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/18\/jmedgenet-2021-108315\">https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/18\/jmedgenet-2021-108315<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/20\/patient-derived-cellular-models-of-primary-ciliopathies\/pollara-et-al-jmg\/\" rel=\"attachment wp-att-1709\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1709\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Pollara-et-al-JMG-300x300.jpg\" alt=\"\" width=\"300\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Pollara-et-al-JMG-300x300.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Pollara-et-al-JMG.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Pollara-et-al-JMG-150x150.jpg 150w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Pollara-et-al-JMG-768x768.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Pollara-et-al-JMG-640x640.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Pollara-et-al-JMG-250x250.jpg 250w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pluripotent stem cells generated from patient samples are increasingly employed to explore disease mechanisms in the lab and test novel therapeutic strategies. Stem cells derived from patients can be cultivated in vitro to produce aggregates of cells that mimic the basic architecture of specific organs in 3D. For patients affected from complex genetic diseases such [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/20\/patient-derived-cellular-models-of-primary-ciliopathies\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1708","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Patient-derived cellular models of primary ciliopathies (Contributed by Dr. Virginie Sottile) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/20\/patient-derived-cellular-models-of-primary-ciliopathies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Patient-derived cellular models of primary ciliopathies (Contributed by Dr. Virginie Sottile) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Pluripotent stem cells generated from patient samples are increasingly employed to explore disease mechanisms in the lab and test novel therapeutic strategies. Stem cells derived from patients can be cultivated in vitro to produce aggregates of cells that mimic the basic architecture of specific organs in 3D. For patients affected from complex genetic diseases such [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/20\/patient-derived-cellular-models-of-primary-ciliopathies\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-02-20T15:52:44+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T01:03:41+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Pollara-et-al-JMG.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1024\" \/>\n\t<meta property=\"og:image:height\" content=\"1024\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/20\\\/patient-derived-cellular-models-of-primary-ciliopathies\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/20\\\/patient-derived-cellular-models-of-primary-ciliopathies\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Patient-derived cellular models of primary ciliopathies (Contributed by Dr. Virginie Sottile)\",\"datePublished\":\"2022-02-20T15:52:44+00:00\",\"dateModified\":\"2026-02-23T01:03:41+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/20\\\/patient-derived-cellular-models-of-primary-ciliopathies\\\/\"},\"wordCount\":121,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/20\\\/patient-derived-cellular-models-of-primary-ciliopathies\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/02\\\/Pollara-et-al-JMG-300x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/20\\\/patient-derived-cellular-models-of-primary-ciliopathies\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/20\\\/patient-derived-cellular-models-of-primary-ciliopathies\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/20\\\/patient-derived-cellular-models-of-primary-ciliopathies\\\/\",\"name\":\"Patient-derived cellular models of primary ciliopathies (Contributed by Dr. Virginie Sottile) - 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