Establishment of a non-integrate iPS cell line CSUASOi002-A, from urine-derived cells of a female patient with macular corneal dystrophy carrying compound heterozygous CHST6 mutations

Stem Cell Res. 2019 Dec;41:101598. doi: 10.1016/j.scr.2019.101598. Epub 2019 Oct 15.

Abstract

We report the human induced pluripotent stem cell line (iPSC) CSUASOi002-A, generated from urine-derived cells (UCs) from a 51-year-old female patient carrying compound heterozygous mutations (c.62_63delTinsGA and c.C892T) in the carbohydrate sulfotransferase 6 gene (CHST6). This patient was from a Chinese family of three siblings with macular corneal dystrophy (MCD). Patient UCs were reprogrammed by electroporation using the episomal plasmids (OCT4, SOX2, KLF4, l-MYC, LIN28 and shP53). The human MCD-UiPS cell line CSUASOi002-A retained the disease-associated genotype, while expressed pluripotent stem cell markers and could be differentiated into cells of all three germ layers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Cellular Reprogramming Techniques*
  • Corneal Dystrophies, Hereditary* / genetics
  • Corneal Dystrophies, Hereditary* / metabolism
  • Corneal Dystrophies, Hereditary* / pathology
  • Female
  • Heterozygote*
  • Humans
  • Middle Aged
  • Mutation*
  • Sulfotransferases* / genetics
  • Sulfotransferases* / metabolism
  • Urine*

Substances

  • Sulfotransferases
  • carbohydrate sulfotransferases