Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a patient suffered from AUTS2 syndrome

Summary

In this study, PBMCs used in reprogramming were from a boy suffered from AUTS2 syndrome confirmed by clinical and genetic diagnosis. iPSCs were established by non-integrated method, which carried AUTS2 heterozygous mutation. The established iPSCs presented similar appearance and expressed pluripotent markers in mRNA and protein level. Additionally, the iPSCs possessed favorable differentiative capacity in vivo and normal karyotype. This is an effective potential model for the study about AUTS2 syndrome and the screen about drug therapy. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Li Z, Li Z, Lv Y, Gao M, Liu N, Gai Z, Liu Q
Journal Stem cell research
Publication Date 2024 Dec;81:103554
PubMed 39276529
DOI 10.1016/j.scr.2024.103554

Research Projects

Cell Lines