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

从两名患有家族性肥厚性心肌病且携带 MYBPC3 错义 c.1484G>A 突变的无血缘关系的个体中生成诱导性多能干细胞系

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作者:Marta Ribeiro, Sandra Martins, Teresa Carvalho, Marta Furtado, Joaquim Sampaio Cabral, Dulce Brito, Maria Carmo-Fonseca, Simão Teixeira da Rocha

Abstract

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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