دورية أكاديمية
Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations.
| العنوان: | Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations. |
|---|---|
| المؤلفون: | Ribeiro M; iBB - Institute for Bioengineering and Biosciences and Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal., Jager J; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, United Kingdom., Furtado M; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal., Carvalho T; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal., Cabral JMS; iBB - Institute for Bioengineering and Biosciences and Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal., Brito D; Heart and Vessels Department, Cardiology Division, Centro Hospitalar Universitário de Lisboa Norte, Lisboa Portugal; Centro Cardiovascular da Universidade de Lisboa (CCUL@RISE), Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal., Carmo-Fonseca M; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal., Martins S; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal. Electronic address: sandramartins@medicina.ulisboa.pt., da Rocha ST; iBB - Institute for Bioengineering and Biosciences and Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal. Electronic address: simao.rocha@tecnico.ulisboa.pt. |
| المصدر: | Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103362. Date of Electronic Publication: 2024 Feb 24. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Kidlington, Oxford : Elsevier |
| مواضيع طبية MeSH: | Cardiomyopathy, Hypertrophic, Familial*/genetics , Cardiomyopathy, Hypertrophic, Familial*/metabolism , Induced Pluripotent Stem Cells*/metabolism, Male ; Female ; Humans ; Adult ; Middle Aged ; Codon, Nonsense ; Leukocytes, Mononuclear ; Mutation ; Cytoskeletal Proteins/genetics |
| مستخلص: | Familial hypertrophic cardiomyopathy (HCM) stands as a predominant heart condition, characterised by left ventricle hypertrophy in the absence of any associated loading conditions, with affected individuals having an increased risk of developing heart failure and sudden cardiac death (SCD). Two induced pluripotent stem cell (iPSC) lines were derived from peripheral blood mononuclear cells obtained from two unrelated individuals with previously reported nonsense mutations in the MYBPC3 gene. The first individual is a 48-year-old male (F26) with the MYBPC3 c.1731G > A HCM mutation, whereas the second individual is a 43-year-old female (F82) carrying the MYBPC3 c.2670G > A HCM mutation. The generated iPSCs exhibit appropriate expression of pluripotency markers, trilineage differentiation capacity and a normal karyotype. This resource contributes to gaining deeper insights into the pathophysiological mechanisms that underlie HCM. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.) |
| المشرفين على المادة: | 0 (Codon, Nonsense) 0 (Cytoskeletal Proteins) |
| تواريخ الأحداث: | Date Created: 20240228 Date Completed: 20240325 Latest Revision: 20240325 |
| رمز التحديث: | 20240325 |
| DOI: | 10.1016/j.scr.2024.103362 |
| PMID: | 38417376 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1876-7753 |
|---|---|
| DOI: | 10.1016/j.scr.2024.103362 |