Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
Summary
Mucopolysaccharidosis 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. Published by Elsevier B.V.
| Authors | Hong J, Xu M, Li R, Cheng YS, Kouznetsova J, Beers J, Liu C, Zou J, Zheng W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 May;37:101451 |
| PubMed | 31071499 |
| PubMed Central | PMC6642610 |
| DOI | 10.1016/j.scr.2019.101451 |