Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 7-year-old male with pathogenic IDS mutation

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)463-465
Number of pages3
JournalStem Cell Research
Volume17
Issue number3
DOIs
Publication statusPublished - Nov 1 2016

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Iduronate Sulfatase
Mucopolysaccharidosis II
Induced Pluripotent Stem Cells
Cell Line
Mutation
Genetic Databases
Germ Layers
Karyotype
Genetic Therapy
Blood Cells
Biomarkers
Pharmaceutical Preparations
Genes

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 7-year-old male with pathogenic IDS mutation. / Varga, Eszter; Nemes, Csilla; Bock, István; Varga, Norbert; Fehér, Anita; Kobolák, Julianna; Dinnyés, A.

In: Stem Cell Research, Vol. 17, No. 3, 01.11.2016, p. 463-465.

Research output: Contribution to journalArticle

Varga, Eszter ; Nemes, Csilla ; Bock, István ; Varga, Norbert ; Fehér, Anita ; Kobolák, Julianna ; Dinnyés, A. / Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 7-year-old male with pathogenic IDS mutation. In: Stem Cell Research. 2016 ; Vol. 17, No. 3. pp. 463-465.
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AU - Kobolák, Julianna

AU - Dinnyés, A.

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