Establishment of induced pluripotent stem cells from a patient with 16p13.11 duplication and VPS13B deletion

16p13.11 重复和 VPS13B 缺失患者的诱导性多能干细胞的建立

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作者:Hiroki Okumura, Yuko Arioka, Itaru Kushima, Daisuke Mori, Norio Ozaki

Abstract

VPS13B deletion and 16p13.11 duplication are related to mental disorders, such as schizophrenia. However, how these variants affect human neurons and contribute to the development of mental disorders is yet to be elucidated. In this study, we generated induced pluripotent stem cells (iPSCs) from a patient with 16p13.11 duplication and VPS13B deletion. The iPSCs indicated pluripotency marker expression and the differentiation capacity into three germ layers in vitro. Therefore, these iPSC lines will be useful tools to further understand the pathophysiology of mental disorders.

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