Percorrer por autor "Bekman, Evguenia P."
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- Generation of two pairs of induced pluripotent stem cells from Angelman syndrome patients with class I 15q11.2-q13.1 deletions and their unaffected familial controlsPublication . Santos, João Camões dos; Mateus, Francisca Cazaux; Arez, Maria; Bekman, Evguenia P.; Rocha, Simão T. daAngelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe developmental delay, speech impairment, ataxia and happy demeanor. AS is caused by loss-of-function of maternal UBE3A in neurons due to (epi)genetic abnormalities. Here, we report two new induced pluripotent stem cell (iPSC) lines from male and female patients carrying ∼ 6 Mb deletions in chr15q11.2-q13.1, together with familial control iPSC lines. All lines express pluripotent stem cell markers, demonstrate trilineage differentiation, and maintain genetic and epigenetic integrity at the locus of interest. These iPSCs provide a platform to model class I deletions, the most severe AS cause, and accelerate therapy development.