Generation of Two Induced Pluripotent Stem Cell (iPSC) Lines From X-linked Adrenoleukodystrophy (X-ALD) Patients With Adrenomyeloneuropathy (AMN)

Stem Cell Res. 2017 Dec;25:46-49. doi: 10.1016/j.scr.2017.10.003. Epub 2017 Oct 12.

Abstract

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. We generated two induced pluripotent stem cell (iPSC) lines from X-ALD patients with adrenomyeloneuropathy (AMN) by Sendai virus containing OCT4, SOX2, KLF4 and c-MYC. Established iPSC lines expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained ABCD1 mutation.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / metabolism
  • Adrenoleukodystrophy / metabolism*
  • Cells, Cultured
  • Flow Cytometry
  • Humans
  • Immunohistochemistry
  • Induced Pluripotent Stem Cells / cytology*
  • Karyotype
  • Mutation / genetics
  • Phenotype

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1