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

doi:10.1016/j.scr.2022.102884

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

Stem Cell Res. 2022 Oct:64:102884. doi: 10.1016/j.scr.2022.102884. Epub 2022 Aug 3.

Authors

Hiroki Okumura¹, Yuko Arioka², Itaru Kushima³, Daisuke Mori⁴, Norio Ozaki⁵

Affiliations

¹ Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Hospital Pharmacy, Nagoya University Hospital, Nagoya, Japan.
² Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan. Electronic address: ariokay@med.nagoya-u.ac.jp.
³ 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.
⁴ Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Brain and Mind Research Center, Nagoya University, Nagoya, Japan.
⁵ Pathophysiology of Psychiatric Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan; Institute for Glyco-core Research (iGCORE), Nagoya University, Nagoya, Japan.

PMID: 35944312
DOI: 10.1016/j.scr.2022.102884

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation / physiology
Humans
Induced Pluripotent Stem Cells* / metabolism
Neurons
Vesicular Transport Proteins / genetics

Substances

VPS13B protein, human
Vesicular Transport Proteins