Rescuing defective X-chromosome inactivation in induced pluripotent stem cells for translational and clinical research

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

Publication . Ribeiro, Marta; Martins, Sandra; Carvalho, Teresa; Furtado, Marta; Cabral, Joaquim M.S.; Brito, Dulce; Carmo-Fonseca, Maria; da Rocha, Simão T.

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.

2024Artigo científico

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Entidade financiadora

Fundação para a Ciência e a Tecnologia

Programa de financiamento

CEEC IND4ed

Número da atribuição

2021.00660.CEECIND/CP1651/CT0018