Generation and characterization of human induced pluripotent stem cell line METUi002-A from a patient with primary familial brain calcification (PFBC) carrying a heterozygous mutation (c.687dupT (p.Val230CysfsTer28)) in the SLC20A2 gene

Stem Cell Res. 2023 Oct:72:103226. doi: 10.1016/j.scr.2023.103226. Epub 2023 Oct 18.

Abstract

Primary familial brain calcification (PFBC) is a rare neurological condition characterized by abnormal calcification commonly in basal ganglia and multiple other brain regions, leading to neuropsychiatric, cognitive, and motor symptoms. SLC20A2, one of the known causative genes for PFBC, contains the highest number of variants directly associated with the disease. Here, we established an iPSC line (METUi002-A) from the peripheral blood mononuclear cells of a clinically diagnosed PFBC patient carrying a SLC20A2 mutation (c.687dupT) using the integration-free Sendai reprogramming. METUi002-A can serve as a valuable tool to generate cellular models to investigate the mechanistic effects of this mutation in PFBC.

MeSH terms

  • Brain / metabolism
  • Brain Diseases* / genetics
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Mutation / genetics
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics
  • Sodium-Phosphate Cotransporter Proteins, Type III / metabolism

Substances

  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III