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
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.
Authors
- Chong Kun Cheon (ORCID: https://orcid.org/0000-0002-8609-5826)
- Haneul Noh
- Nayeon Lee (ORCID: https://orcid.org/0000-0002-3377-2301)
Institutions
- Korea Institute of Toxicology (KR)
- Pusan National University Yangsan Hospital (KR)
- Pusan National University (KR)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-12-31
- DOI
- https://doi.org/10.1016/j.scr.2024.103639
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00