Generation of induced pluripotent stem cell line (ZZUi0012-A) from a patient with Fahr's disease caused by a novel mutation in SLC20A2 gene

Stem Cell Res. 2019 Mar:35:101395. doi: 10.1016/j.scr.2019.101395. Epub 2019 Jan 28.

Abstract

Several SLC20A2 mutations have been implicated as potential causes of Fahr's disease, a subtype of primary familial brain calcification (PFBC), but very few patient-derived induced pluripotent stem cell (iPSC) models have been established. We have identified a novel SLC20A2 mutation in a family with Fahr's disease. We subsequently obtained dermal fibroblasts from a patient in this family. These fibroblasts were successfully transformed into iPSCs by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our approach offers a resource and a platform for further research into the mechanism of Fahr's disease and could facilitate development and screening of pharmaceutical and gene therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Basal Ganglia Diseases* / genetics
  • Basal Ganglia Diseases* / metabolism
  • Basal Ganglia Diseases* / pathology
  • Calcinosis* / genetics
  • Calcinosis* / metabolism
  • Calcinosis* / pathology
  • Cell Line
  • Cellular Reprogramming Techniques*
  • Dermis / metabolism
  • Dermis / pathology
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Induced Pluripotent Stem Cells* / pathology
  • Kruppel-Like Factor 4
  • Male
  • Mutation*
  • Neurodegenerative Diseases* / genetics
  • Neurodegenerative Diseases* / metabolism
  • Neurodegenerative Diseases* / pathology
  • Sodium-Phosphate Cotransporter Proteins, Type III* / genetics
  • Sodium-Phosphate Cotransporter Proteins, Type III* / metabolism

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III

Supplementary concepts

  • Fahr's disease