Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene
Summary
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. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Gao C, Liu Y, Liu N, Li Z, Yang X, Yang Y, Xi Y, Tian J, Gai Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103242 |
| PubMed | 37948839 |
| DOI | 10.1016/j.scr.2023.103242 |