Generation of human induced pluripotent stem cells from a patient with Beckwith-Wiedemann syndrome

Generation of human induced pluripotent stem cells from a patient with Beckwith-Wiedemann syndrome | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Generation of human induced pluripotent stem cells from a patient with Beckwith-Wiedemann syndrome mei Tang, Jiafan Lei, Congwen Shao, Wenyan Zhou, Min Xiong, Min Huang, and 5 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-5034318/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 27 Jun, 2025 Read the published version in Human Cell → Version 1 posted 5 You are reading this latest preprint version Abstract Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder caused by an imprinting abnormality in the chromosome 11p15.5 region. It is rare and sporadic with unclear etiology and pathogenesis. We identified a family with a clustering of BWS cases. An induced pluripotent stem cell line (BWS iPSC) was generated from peripheral blood mononuclear cells (PBMCs) of one affected family member using a non-integrating reprogramming method. This cell line could be further differentiated into multiple lineages, enabling us to determine the relationship of the expression of abnormal imprinting genes in BWS to cellular phenotypes, thus elucidating the pathogenic mechanisms of BWS. In future, the multi-lineage cells can be used to test various innovative therapies, providing conceptual validation for the treatment of BWS. Full Text Supplementary Files SupplementaryMaterial.pdf Cite Share Download PDF Status: Published Journal Publication published 27 Jun, 2025 Read the published version in Human Cell → Version 1 posted Reviewers agreed at journal 30 Mar, 2025 Reviewers invited by journal 28 Mar, 2025 Editor assigned by journal 28 Mar, 2025 First submitted to journal 24 Mar, 2025 Editorial decision: Minor Revisions Needed 07 Oct, 2024 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-5034318","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":435560973,"identity":"47b5723b-cbe3-45dc-b7c0-e1ba456357ea","order_by":0,"name":"mei Tang","email":"","orcid":"","institution":"Shenzhen Hospital of Southern Medical University","correspondingAuthor":false,"prefix":"","firstName":"mei","middleName":"","lastName":"Tang","suffix":""},{"id":435560974,"identity":"7d95ffff-4c44-42b6-ae04-778b8be71120","order_by":1,"name":"Jiafan Lei","email":"","orcid":"","institution":"Shenzhen Hospital of Southern Medical 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