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:10.1016/j.scr.2017.07.009

Generation of a homozygous GBA deletion human embryonic stem cell line

Stem Cell Res. 2017 Aug:23:122-126. doi: 10.1016/j.scr.2017.07.009. Epub 2017 Jul 11.

Authors

Anna Lisa Gündner¹, Claas Aiko Meyer², Stefan Aigner², Klaus Christensen², Christoph Patsch², Ravi Jagasia², Karlheinz Baumann², Mark Burcin²

Affiliations

¹ Roche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd., Grenzacherstrasse 124, CH-4070 Basel, Switzerland; Department of Biomedicine, University of Basel, Mattenstrasse 28, CH-4058 Basel, Switzerland. Electronic address: anna_lisa.guendner@roche.com.
² Roche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd., Grenzacherstrasse 124, CH-4070 Basel, Switzerland.

PMID: 28925361
DOI: 10.1016/j.scr.2017.07.009

Abstract

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.

MeSH terms

Base Sequence
Cell Culture Techniques / methods*
Cell Line
Gene Deletion*
Glucosylceramidase / genetics*
Homozygote
Human Embryonic Stem Cells / enzymology*
Humans
Loss of Function Mutation / genetics

Substances

Glucosylceramidase