Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene

Stem Cell Res. 2019 Dec:41:101664. doi: 10.1016/j.scr.2019.101664. Epub 2019 Nov 21.

Abstract

Human IPSC Line, ZZUNEUi003-A, was generated from a 32-year-old male patient with Wilson's Disease carrying a homozygous R778L mutation in ATP7B gene, using non-integrative reprogramming method. This cell line shows pluripotency both in vitro and vivo, and has a normal karyotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line / pathology*
  • Copper-Transporting ATPases / genetics*
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / pathology*
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Male
  • Mutation / genetics*

Substances

  • ATP7B protein, human
  • Copper-Transporting ATPases