Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4-7 del) in in human iduronate 2-sulfatase gene

Summary

Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene. We obtained peripheral blood mononuclear cells (PBMCs) from a patient with a severe type of Hunter syndrome carrying c.418 + 495_1006 + 1304 deletion in the IDS gene. We generated an induced pluripotent stem cell (iPSC) line (PNUSCRi005-A hiPSCs) from the PBMCs of the patient using non-integrative Sendai virus. The hiPSCs exhibited embryonic stem cell-like characteristics, showed differentiation properties into three germ layers, and had a normal karyotype. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Lee N, Noh H, Cheon CK
Journal Stem cell research
Publication Date 2024 Dec 31;83:103639
PubMed 39793273
DOI 10.1016/j.scr.2024.103639

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