Establishment of a transgene-free iPS cell line (SDQLCHi046-A) from a young patient bearing a HDAC8 mutation and suffering from Cornelia de Lange Syndrome


In this study, peripheral blood mononuclear cells were isolated from a young male patient bearing a histone deacetyl-lase 8 (HDAC8) mutation and suffering from Cornelia de Lange Syndrome verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, and expressed pluripotent stem cell markers at the mRNA and protein level. The iPSCs also showed differentiative capacity in vitro, and a normal karyotype. In addition, the established iPSCs still carried the HDAC8 mutation observed in the donor tissue. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Li Z, Liu C, Xin H, Yang Y, Wang Y, Niu S, Gao C, Gai Z, Liu Y
Journal Stem cell research
Publication Date 2022 Dec 5;66:102984
PubMed 36481505
DOI 10.1016/j.scr.2022.102984

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