Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830 kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene


An induced pluripotent stem cell (iPSC) line was generated from human urine-derived cells of a 4 year-old boy with autism spectrum disorder(ASD) and developmental delay (DD) carrying a 830 kb de novo deletion at chromosome 7q11.22 disrupting the first exon and promoter region of AUTS2. The iPSC retained the original deletion of AUTS2, and had a normal karyotype, express pluripotency markers and bear differentiation potential in vitro. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Yang X, Zhou T, Zhang H, Li Y, Dong R, Liu N, Pan G, Liu Y, Gai Z
Journal Stem cell research
Publication Date 2019 Oct;40:101557
PubMed 31505389
DOI 10.1016/j.scr.2019.101557

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