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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
oleh: Zilong Li, Chen Liu, Hongmei Xin, Yanan Yang, Yanxin Wang, Shasha Niu, Chunlai Gao, Zhongtao Gai, Yi Liu
Format: | Article |
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Diterbitkan: | Elsevier 2023-02-01 |
Deskripsi
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.