Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene
oleh: Chunlai Gao, Yi Liu, Ning Liu, Zilong Li, Xiaomeng Yang, Yanan Yang, Yue Xi, Jianjun Tian, Zhongtao Gai
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-12-01 |
Deskripsi
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.