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

[摘要] 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.

[学科分类] 生理学

[关键词] iPSC;Reprogramming;HDAC8;CdLS