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

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

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)482-484
Number of pages3
JournalStem Cell Research
Volume17
Issue number3
DOIs
Publication statusPublished - Nov 1 2016

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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