Generation of induced pluripotent stem cell line (ZZUi0024-A) from a 51-year-old patient with APP gene mutation in Alzheimer' s disease

Stem Cell Res. 2021 May:53:102267. doi: 10.1016/j.scr.2021.102267. Epub 2021 Feb 24.

Abstract

Alzheimer's disease (AD) is a neurodegenerative disease that manifests mainly as cognitive, behavioral, and neuropsychiatric changes and impairs social functions and activities of daily living. The β-amyloid precursor protein (APP) gene is one of the most common pathogenic genes associated with AD. We isolated dermal fibroblasts from a 51-year-old woman with an APP gene mutation (c.1756G > A). The induced pluripotent stem cells (iPSCs) were successfully constructed by transferring the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. The generated iPSC line was pluripotent, as verified by immunofluorescence, flow cytometry, and teratoma formation test. The iPSC line will have broad prospects in drug screening, cell transplantation, and gene therapy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activities of Daily Living
  • Alzheimer Disease* / genetics
  • Amyloid beta-Protein Precursor / genetics
  • Cell Differentiation
  • Female
  • Fibroblasts
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Middle Aged
  • Mutation
  • Neurodegenerative Diseases*

Substances

  • Amyloid beta-Protein Precursor
  • KLF4 protein, human
  • Kruppel-Like Factor 4