Stem Cell Research (Dec 2024)

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

  • Zilong Li,
  • Zhengbin Li,
  • Yuqiang Lv,
  • Min Gao,
  • Ning Liu,
  • Zhongtao Gai,
  • Qiji Liu

Journal volume & issue
Vol. 81
p. 103554

Abstract

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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.

Keywords