Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying hemizygous 208insC mutations in the IDS gene

Publication date: Available online 25 April 2019Source: Stem Cell ResearchAuthor(s): Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei ZhengAbstractMucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S). This is a multisystem disorder with significant variation in symptoms. Here, we document a human induced pluripotent stem cell (iPSC) line generated from dermal fibroblasts of a patient with Hunter syndrome containing a hemizygous mutation of a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene. The generation of this line will allow development of cell-based models for drug development, as well as the study of disease pathophysiology.
Source: Stem Cell Research - Category: Stem Cells Source Type: research