Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene

Stem Cell Res. 2017 Oct:24:40-43. doi: 10.1016/j.scr.2017.07.028. Epub 2017 Jul 29.

Abstract

Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers. The iPSC line will be useful for further elucidating the pathomechanism and/or drug development for IBGC.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Basal Ganglia Diseases / genetics*
  • Basal Ganglia Diseases / metabolism
  • Basal Ganglia Diseases / pathology
  • Calcinosis / genetics*
  • Calcinosis / metabolism
  • Calcinosis / pathology
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • 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

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

Supplementary concepts

  • Fahr's disease