دورية أكاديمية
أعرض في EDS

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.

التفاصيل البيبلوغرافية
العنوان: Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.
المؤلفون: Ribeiro M; iBB - Institute for Bioengineering and Biosciences and Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal.; Associate Laboratory i4HB Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal., Jager J; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK., Furtado M; Faculdade de Medicina, Instituto de Medicina Molecular João Lobo Antunes, Universidade de Lisboa, Lisbon, Portugal., Carvalho T; Faculdade de Medicina, Instituto de Medicina Molecular João Lobo Antunes, Universidade de Lisboa, Lisbon, Portugal., Cabral JMS; iBB - Institute for Bioengineering and Biosciences and Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal.; Associate Laboratory i4HB Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal., Brito D; Heart and Vessels Department, Cardiology Division, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.; Centro Cardiovascular da Universidade de Lisboa (CCUL@RISE), Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal., Carmo-Fonseca M; Faculdade de Medicina, Instituto de Medicina Molecular João Lobo Antunes, Universidade de Lisboa, Lisbon, Portugal., Martins S; Faculdade de Medicina, Instituto de Medicina Molecular João Lobo Antunes, Universidade de Lisboa, Lisbon, Portugal. sandramartins@medicina.ulisboa.pt., da Rocha ST; iBB - Institute for Bioengineering and Biosciences and Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal. simao.rocha@tecnico.ulisboa.pt.; Associate Laboratory i4HB Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal. simao.rocha@tecnico.ulisboa.pt.
المصدر: Human cell [Hum Cell] 2024 Jul; Vol. 37 (4), pp. 1205-1214. Date of Electronic Publication: 2024 May 18.
نوع المنشور: Journal Article; Case Reports
اللغة: English
بيانات الدورية: Publisher: Springer Country of Publication: Japan NLM ID: 8912329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1749-0774 (Electronic) Linking ISSN: 09147470 NLM ISO Abbreviation: Hum Cell Subsets: MEDLINE
أسماء مطبوعة: Publication: 2011- : Tokyo : Springer
Original Publication: Tōkyō-to : Hito Saibō Kenkyūkai : Kanishobo, Shōwa 63-nen [1988]-
مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Cardiomyopathy, Hypertrophic*/genetics , Cardiomyopathy, Hypertrophic*/etiology , Carrier Proteins*/genetics , Carrier Proteins*/metabolism , Cell Differentiation*/genetics, Humans ; Female ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/pathology ; Mutation, Missense/genetics ; Severity of Illness Index ; Mutation/genetics ; Cell Line ; Frameshift Mutation/genetics ; Leukocytes, Mononuclear/metabolism ; Cells, Cultured
مستخلص: Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in the MYPBC3 gene, which encodes the cardiac myosin-binding protein C (cMyBP-C). Most pathogenic variants in MYPBC3 are either nonsense mutations or result in frameshifts, suggesting that the primary disease mechanism involves reduced functional cMyBP-C protein levels within sarcomeres. However, a subset of MYPBC3 variants are missense mutations, and the molecular mechanisms underlying their pathogenicity remain elusive. Upon in vitro differentiation into cardiomyocytes, induced pluripotent stem cells (iPSCs) derived from HCM patients represent a valuable resource for disease modeling. In this study, we generated two iPSC lines from peripheral blood mononuclear cells (PBMCs) of a female with early onset and severe HCM linked to the MYBPC3: c.772G > A variant. Although this variant was initially classified as a missense mutation, recent studies indicate that it interferes with splicing and results in a frameshift. The generated iPSC lines exhibit a normal karyotype and display hallmark characteristics of pluripotency, including the ability to undergo trilineage differentiation. These novel iPSCs expand the existing repertoire of MYPBC3-mutated cell lines, broadening the spectrum of resources for exploring how diverse mutations induce HCM. They additionally offer a platform to study potential secondary genetic elements contributing to the pronounced disease severity observed in this individual.
(© 2024. The Author(s).)
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معلومات مُعتمدة: LCF/PR/HR20/52400021. LaCaixa Foundation
فهرسة مساهمة: Keywords: MYBPC3; Disease modeling; Hypertrophic cardiomyopathy; hiPSCs
المشرفين على المادة: 0 (myosin-binding protein C)
0 (Carrier Proteins)
تواريخ الأحداث: Date Created: 20240518 Date Completed: 20240623 Latest Revision: 20240711
رمز التحديث: 20240711
مُعرف محوري في PubMed: PMC11194200
DOI: 10.1007/s13577-024-01073-y
PMID: 38762696
قاعدة البيانات: MEDLINE
الوصف
تدمد:1749-0774
DOI:10.1007/s13577-024-01073-y