Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of Mucopolysaccharidosis type II (MPS II) disorder

Eszter Varga, Csilla Nemes, Eszter Kovács, István Bock, Norbert Varga, Anita Fehér, A. Dinnyés, Julianna Kobolák

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Abstract

Peripheral blood was collected from a 39-year-old unaffected female carrier of an X-linked recessive mutation of Iduronate 2-sulfatase 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 iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC showed normal karyotype. The line offers a good platform to study MPS II pathophysiology, for drug testing, early biomarker discovery and gene therapy studies.

Original languageEnglish
Pages (from-to)514-516
Number of pages3
JournalStem Cell Research
Volume17
Issue number3
DOIs
Publication statusPublished - Nov 1 2016

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ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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