Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene

Stem Cell Res. 2020 Dec:49:102032. doi: 10.1016/j.scr.2020.102032. Epub 2020 Oct 14.

Abstract

Mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as one of the causative genes for neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN). Here, we used the Sendai virus delivery system to generate induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with MPAN having a novel heterozygous frameshift mutation caused by an insertion, c.273_274insA (p.P92Tfs*9), in C19orf12. This cellular model could provide a platform for pathophysiological studies of MPAN.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain
  • Female
  • Frameshift Mutation / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Iron Metabolism Disorders
  • Leukocytes, Mononuclear
  • Mitochondrial Proteins / genetics
  • Mutation
  • Neuroaxonal Dystrophies
  • Neurodegenerative Diseases*

Substances

  • C19orf12 protein, human
  • Mitochondrial Proteins

Supplementary concepts

  • Neurodegeneration with brain iron accumulation (NBIA)