Stem Cell Research (Dec 2023)

Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI

  • Ekaterina Kondrateva,
  • Olga Grigorieva,
  • Irina Panchuk,
  • Igor Bychkov,
  • Ekaterina Zakharova,
  • Vyacheslav Tabakov,
  • Victoria Pozhitnova,
  • Ekaterina Voronina,
  • Olga Shchagina,
  • Alexander Lavrov,
  • Svetlana Smirnikhina,
  • Sergey Kutsev

Journal volume & issue
Vol. 73
p. 103259

Abstract

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Skin fibroblasts obtained from a 5-year-old girl with genetically proven (two heterozygous mutations in ARSB gene) and clinically manifested mucopolysaccharidosis type VI were successfully transformed into induced pluripotent stem cells by using Sendai virus-based reprogramming vectors including the four Yamanaka factors namely SOX2, OCT3/4, KLF4, and c-MYC. These iPSCs expressed pluripotency markers, had a normal karyotype and the potential to differentiate into three germ layers in spontaneous differentiation assay. The line may be used for cell differentiation and pharmacological investigations, and also may provide a model for development of a personalized treatment including drug screening and genome editing.