Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease

Silvin Lito, Patricie Burda, Matthias Baumgartner, Frédérique Sloan-Béna, Zsuzsanna Táncos, Julianna Kobolák, András Dinnyés, Karl Heinz Krause, Antoine Marteyn

Research output: Contribution to journalArticle

Abstract

Mucopolysaccharidosis type I-Hurler (MPS1-H) is the most severe form of inherited metabolic diseases caused by mutations in the IDUA gene. The resulting deficiency of alpha L-iduronidase enzyme leads to a progressive accumulation of glycosaminoglycans in lysosomes which damages multiple organs and highly reduces life expectancy of affected children. Skin fibroblasts of a 2-year-old MPS1-H male, carrying two mutations in each IDUA alleles (H358_T364del; W402X), were reprogrammed into induced pluripotent stem cells (iPSCs) using the CytoTune-iPS Sendai Reprogramming method applying Yamanaka-factors (OCT4, SOX2, KLF4, c-MYC). iPSCs expressed pluripotency transcription factors while iPSC-derived embryoid bodies reveal markers of the three germ layers.

Original languageEnglish
Article number101604
JournalStem Cell Research
Volume41
DOIs
Publication statusPublished - Dec 2019

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Mucopolysaccharidoses
Induced Pluripotent Stem Cells
Mucopolysaccharidosis I
Cell Line
Embryoid Bodies
Germ Layers
Mutation
Metabolic Diseases
Life Expectancy
Lysosomes
Glycosaminoglycans
Transcription Factors
Fibroblasts
Alleles
Skin
Enzymes
Genes

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease. / Lito, Silvin; Burda, Patricie; Baumgartner, Matthias; Sloan-Béna, Frédérique; Táncos, Zsuzsanna; Kobolák, Julianna; Dinnyés, András; Krause, Karl Heinz; Marteyn, Antoine.

In: Stem Cell Research, Vol. 41, 101604, 12.2019.

Research output: Contribution to journalArticle

Lito, Silvin ; Burda, Patricie ; Baumgartner, Matthias ; Sloan-Béna, Frédérique ; Táncos, Zsuzsanna ; Kobolák, Julianna ; Dinnyés, András ; Krause, Karl Heinz ; Marteyn, Antoine. / Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease. In: Stem Cell Research. 2019 ; Vol. 41.
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