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...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003374 |
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| author | Nayeon Lee Haneul Noh Chong Kun Cheon |
| author_facet | Nayeon Lee Haneul Noh Chong Kun Cheon |
| author_sort | Nayeon Lee |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-bb1dba94a8a64ebf934788d8f971785f |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-bb1dba94a8a64ebf934788d8f971785f2025-08-20T02:43:29ZengElsevierStem Cell Research1873-50612025-03-018310363910.1016/j.scr.2024.103639Human 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 geneNayeon Lee0Haneul Noh1Chong Kun Cheon2Convergence Stem Cell Research Center, Medical Research Institute, Pusan National University School of Medicine, Yangsan 50612, Gyeongsangnam-do, Republic of KoreaCenter for Biomimetic Research, Division of Advanced Predictive Research, Korea Institute of Toxicology (KIT), Daejeon, Republic of KoreaDivision of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University School of Medicine, Pusan National University Children’s Hospital, Yangsan 50612, Gyeongsangnam-do, Republic of Korea; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506124003374 |
| spellingShingle | Nayeon Lee Haneul Noh Chong Kun Cheon 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 Stem Cell Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003374 |
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