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

Hiroki Okumura; Yuko Arioka; Itaru Kushima; Daisuke Mori; Norio Ozaki

Stem Cell Research (Oct 2022)

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

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

Affiliations

Hiroki Okumura: Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Hospital Pharmacy, Nagoya University Hospital, Nagoya, Japan
Yuko Arioka: Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan; Corresponding author at: Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
Itaru Kushima: Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan
Daisuke Mori: Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Brain and Mind Research Center, Nagoya University, Nagoya, Japan
Norio Ozaki: Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Institute for Glyco-core Research (iGCORE), Nagoya University, Nagoya, Japan

Journal volume & issue: Vol. 64
p. 102884

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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