Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient

Stem Cell Res. 2021 Mar;51:102170. doi: 10.1016/j.scr.2021.102170. Epub 2021 Jan 12.


The gene mutations of the ATP-binding-cassette transporter subfamily D member 1 (ABCD1) can lead to the inherited neuro-metabolic malfunction disease X-linked adrenoleukodystrophy (X-ALD). Human urine cells from a 6-year-old male X-ALD patient harboring a ABCD1 gene frameshift (c.2013insA, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi014-A with Sendai virus reprogramming kit containing OCT4, SOX2, c-MYC, and KLF4 Yamanaka factors. The established iPSCs in vitro stably expressed pluripotent markers, had differentiation potential into three germ layers, and maintained a normal 44 + XY karyotype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenoleukodystrophy* / genetics
  • Cell Differentiation
  • Child
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Male
  • Mutation
  • Sendai virus