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Publicação
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 controls
Orientador(es)
Resumo(s)
Angelman 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.
Descrição
Palavras-chave
Angelman syndrome induced pluripotent stem cells
Contexto Educativo
Citação
Camões Dos Santos, J., Cazaux Mateus, F., Arez, M., Bekman, E. P., & da Rocha, S. T. (2025). 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 controls. Stem cell research, 86, 103741. https://doi.org/10.1016/j.scr.2025.103741
Editora
Elsevier