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


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

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