Stem Cell Research (Apr 2022)

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

  • Louet Koolen,
  • Giuliana Gagliardi,
  • Sofie C.A. ten Brink,
  • Anita de Breuk,
  • Thomas J. Heesterbeek,
  • Carel B. Hoyng,
  • Silvia Albert,
  • Anneke I. den Hollander

Journal volume & issue
Vol. 60
p. 102669

Abstract

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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.