Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation

被引：1
|
作者：
Ribeiro, Marta [1 ,2 ]
Martins, Sandra [3 ,4 ]
Carvalho, Teresa [3 ,4 ]
Furtado, Marta [3 ,4 ]
Cabral, Joaquim Sampaio [1 ,2 ]
Brito, Dulce [5 ,6 ]
Carmo-Fonseca, Maria [3 ,4 ]
da Rocha, Simao Teixeira [1 ,2 ]
机构：
[1] Univ Lisbon, Inst Super Tecn, IBB Inst Biosci & Bioengn, Lisbon, Portugal
[2] Univ Lisbon, Inst Super Tecn, Dept Bioengn, Lisbon, Portugal
[3] Univ Lisbon, Associate Lab Inst Hlth & Bioecon i4HB, Inst Super Tecn, Lisbon, Portugal
[4] Univ Lisbon, Fac Med, Inst Med Mol Joao Lobo Antunes, Lisbon, Portugal
[5] Ctr Hosp Univ Lisboa Norte, Heart & Vessels Dept, Cardiol Div, Lisbon, Portugal
[6] Univ Lisbon, Ctr Cardiovasc Univ Lisboa CCULRISE, Fac Med, Lisbon, Portugal
来源：
STEM CELL RESEARCH | 2024年 / 74卷
关键词：
D O I：
10.1016/j.scr.2023.103282
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：5
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