Generation and characterization of human induced pluripotent stem cells (iPSCs) from three patients with age-related macular degeneration carrying rare variants in the CFH gene

Stem Cell Res. 2022 Apr:60:102669. doi: 10.1016/j.scr.2022.102669. Epub 2022 Jan 15.

Abstract

Age-related macular degeneration (AMD) is a major cause of vision loss among the elderly in the Western world. AMD is multifactorial eye disease with a strong genetic contribution. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from peripheral blood mononuclear cells of three patients with AMD carrying rare variants in the complement factor H (CFH) gene. These cell lines were generated for cellular studies investigating the disease mechanisms and developing therapeutic interventions for AMD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cell Line
  • Complement Factor H / genetics
  • Complement Factor H / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Macular Degeneration* / genetics
  • Macular Degeneration* / metabolism
  • Polymorphism, Single Nucleotide

Substances

  • Complement Factor H