Generation of iPSC line (GLNNFi001-A) from peripheral blood mononuclear cells of a patient with macular corneal dystrophy

Stem Cell Res. 2022 Jul:62:102789. doi: 10.1016/j.scr.2022.102789. Epub 2022 Apr 22.

Abstract

Macular corneal dystrophy (MCD) an autosomal recessive disorder leading to severe visual impairment is caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) gene. Here, we describe generation of a iPSC line from peripheral blood mononuclear cells (PBMCs) from a 38 year old MCD patient harboring a homozygous mutation, p.V172L in the CHST6 gene. The iPSC line GLNNFi001-A was generated using an integration-free Sendai virus containing (KLF4, c-MYC, OCT4 and SOX2).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Corneal Dystrophies, Hereditary* / genetics
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukocytes, Mononuclear
  • Mutation / genetics

Supplementary concepts

  • Macular dystrophy, corneal type 1