AI Article Synopsis
- A 7-year-old boy with a mutation in the IDS gene causing MPS II had his peripheral blood collected for research.
- Scientists reprogrammed his peripheral blood mononuclear cells (PBMCs) using a special vector, creating an induced pluripotent stem cell (iPSC) line.
- This iPSC line, confirmed to be pluripotent and genetically normal, provides a valuable platform for studying the disease, testing drugs, discovering biomarkers, and exploring gene therapy options.
Article Abstract
Peripheral blood was collected from a 7-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.182C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype. The cell line offers a good platform to study MPS II pathophysiology, for drug testing, early biomarker discovery and gene therapy studies.
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| http://dx.doi.org/10.1016/j.scr.2016.09.034 | DOI Listing |
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