دورية أكاديمية
Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation.
| العنوان: | Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation. |
|---|---|
| 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., Martins S; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal. Electronic address: sandramartins@medicina.ulisboa.pt., Carvalho T; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal., Furtado M; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal., Sampaio Cabral J; 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., 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 Feb; Vol. 74, pp. 103282. Date of Electronic Publication: 2023 Dec 13. |
| 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, Adult ; Female ; Humans ; Male ; Middle Aged ; Cell Differentiation ; Leukocytes, Mononuclear/metabolism ; Mutation |
| مستخلص: | Familial hypertrophic cardiomyopathy (HCM) is the most common inherited heart condition. HCM patients show left ventricle hypertrophy without any associated loading conditions, being at risk for heart failure and sudden cardiac death. Two induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells obtained from two unrelated individuals, a 54-year-old male (F81) and a 44-year-old female (F93), both carrying the MYBPC3 c.1484G>A HCM mutation. iPSCs show expression of pluripotency markers, trilineage differentiation capacity and a normal karyotype. This resource enables further assessment of the pathophysiological development of 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 © 2023. Published by Elsevier B.V.) |
| المشرفين على المادة: | 0 (myosin-binding protein C) |
| تواريخ الأحداث: | Date Created: 20231217 Date Completed: 20240205 Latest Revision: 20240205 |
| رمز التحديث: | 20240206 |
| DOI: | 10.1016/j.scr.2023.103282 |
| PMID: | 38104429 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1876-7753 |
|---|---|
| DOI: | 10.1016/j.scr.2023.103282 |