Establishment of induced pluripotent stem cells from a patient with 16p13.11 duplication and VPS13B deletion
Establishment of induced pluripotent stem cells from a patient with 16p13.11 duplication and VPS13B deletion
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16p13.11 重复和 VPS13B 缺失患者诱导多能干细胞的建立
DOI：
10.1016/j.scr.2022.102884
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发表时间：
2022
期刊：
影响因子：
1.2
通讯作者：
N.
中科院分区：
文献类型：
--
作者：
Okumura;H. Arioka;Y. Kushima;I. Mori;D. Ozaki;N.
VPS13B缺失和16p13.11重复与精神疾病如精神分裂症有关。然而，这些变异如何影响人类神经元并促进精神障碍的发展尚未阐明。在这项研究中，我们从一名16p13.11重复和VPS13B缺失的患者中产生了诱导多能干细胞（iPSC）。诱导多能干细胞在体外具有多能性标志物表达和向三个胚层分化的能力。因此，这些iPSC细胞系将是进一步了解精神障碍病理生理学的有用工具。
VPS13Bdeletion 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 andVPS13Bdeletion. The iPSCs indicated pluripotency marker expression and the differentiation capacity into three germ layersin vitro. Therefore, these iPSC lines will be useful tools to further understand the pathophysiology of mental disorders.