Article
Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene.
Stem cell research - 1 Dec 2023
Gao Chunlai, Liu Yi, Liu Ning, Li Zilong, Yang Xiaomeng, Yang Yanan, Xi Yue, Tian Jianjun, Gai Zhongtao
Abstract excerpt
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...
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