Arioka Yuko, Kushima Itaru, Kubo Hisako, Mori Daisuke, Ozaki Norio
Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan; Institute for Advanced Research, Nagoya University, Nagoya, Japan.
Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Institute for Advanced Research, Nagoya University, Nagoya, Japan.
Stem Cell Res. 2018 Jul;30:81-84. doi: 10.1016/j.scr.2018.05.013. Epub 2018 May 19.
Astrotactin-2, encoded by ASTN2, is implicated in neuronal migration. Although genetic studies of schizophrenia (SCZ) patients have suggested that exonic deletions of ASTN2 are associated with neurodevelopmental and psychiatric disorders, their biological significance remains unclear. Herein, we generated human induced pluripotent stem cells (iPSCs) from a SCZ patient with an exonic deletion of ASTN2. The generated iPSCs carried ASTN2 deletion and showed typical iPSC morphology, pluripotency marker expression, normal chromosomal aneuploidy, and the capacity to differentiate into three germ layers. This iPSC line may be suitable for evaluating Astrotactin-2 function relevant for SCZ onset in the human brain.
由ASTN2编码的Astrotactin-2与神经元迁移有关。尽管对精神分裂症（SCZ）患者的遗传学研究表明，ASTN2的外显子缺失与神经发育和精神疾病有关，但其生物学意义仍不清楚。在此，我们从一名患有ASTN2外显子缺失的SCZ患者中生成了人诱导多能干细胞（iPSC）。所生成的iPSC携带ASTN2缺失，并表现出典型的iPSC形态、多能性标志物表达、正常的染色体非整倍性以及分化为三个胚层的能力。该iPSC系可能适用于评估与人类大脑中SCZ发病相关的Astrotactin-2功能。
