Stem Cell Research (Aug 2017)

Generation of a homozygous GBA deletion human embryonic stem cell line

  • Anna Lisa Gündner,
  • Claas Aiko Meyer,
  • Stefan Aigner,
  • Klaus Christensen,
  • Christoph Patsch,
  • Ravi Jagasia,
  • Karlheinz Baumann,
  • Mark Burcin

DOI
https://doi.org/10.1016/j.scr.2017.07.009
Journal volume & issue
Vol. 23, no. C
pp. 122 – 126

Abstract

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We describe the generation of a biallelic GBA deletion human embryonic stem cell line using zinc finger nuclease-mediated gene targeting. The homozygous targeting of exon 4 of the GBA locus leads to a complete loss of glucocerebrosidase (GCase) protein expression.