Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 1-year-old male with pathogenic IDS mutation

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• 作者：Eszter Varga^a ; Csilla Nemes^a ; Istvá ; n Bock^a ; Norbert Varga^b ; Anita Fehé ; r^a ; Andrá ; s Dinnyé ; s^a ; ^c ; Julianna Kobolá ; k^a ;
• 刊名：Stem Cell Research
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：17
• 期：3
• 页码：482-484
• 全文大小：494 K
• 卷排序：17

文摘

Peripheral blood was collected from a 1-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.85C > 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.