Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I

Stem Cell Res. 2019 Apr;36:101406. doi: 10.1016/j.scr.2019.101406. Epub 2019 Feb 12.

Abstract

Mucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded by IDUA gene. MPS I is a progressive multisystemic disorder with a wide range of symptoms, including skeletal abnormalities and cognitive impairment, and is characterized by a wide spectrum of severity levels caused by varied mutations in IDUA. A human iPSC line was established from an attenuated MPS I (Scheie syndrome) patient carrying an IDUA gene mutation (c.266G > A; p.R89Q). This disease-specific iPSC line will be useful for the research of MPS I.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line*
  • Female
  • Humans
  • Iduronidase / genetics*
  • Induced Pluripotent Stem Cells*
  • Middle Aged
  • Mucopolysaccharidosis I / genetics*

Substances

  • IDUA protein, human
  • Iduronidase