Gao Chunlai, Liu Yi, Liu Ning, Li Zilong, Yang Xiaomeng, Yang Yanan, Xi Yue, Tian Jianjun, Gai Zhongtao
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
Stem Cell Res. 2023 Dec;73:103242. doi: 10.1016/j.scr.2023.103242. Epub 2023 Nov 3.
AUTS2 syndrome is a neurodevelopmental disorder caused by pathogenic variants and deletions of the AUTS2 gene, resulting in intellectual disability, microcephaly, and other phenotypes. Here, we generated a human induced pluripotent stem cell (iPSC) line from a 21-month-old boy with AUTS2 syndrome caused by a heterozygous mutation (c.1486C > T, p.Q496X) in the AUTS2 gene. The iPSCs had normal morphology and karyotype, expressed pluripotency markers, showed differentiation potential in vitro, and carried the AUTS2 gene mutation.
AUTS2综合征是一种由AUTS2基因的致病变异和缺失引起的神经发育障碍，导致智力残疾、小头畸形和其他表型。在此，我们从一名21个月大的男孩身上生成了人类诱导多能干细胞（iPSC）系，该男孩患有由AUTS2基因杂合突变（c.1486C>T，p.Q496X）引起的AUTS2综合征。这些iPSC具有正常的形态和核型，表达多能性标志物，在体外显示出分化潜能，并携带AUTS2基因突变。
