Generation of a homozygous GBA deletion human embryonic stem cell line

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.

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Bibliographische Detailangaben
Veröffentlicht in:	Stem cell research 2017-08, Vol.23 (C), p.122-126
Hauptverfasser:	Gündner, Anna Lisa, Meyer, Claas Aiko, Aigner, Stefan, Christensen, Klaus, Patsch, Christoph, Jagasia, Ravi, Baumann, Karlheinz, Burcin, Mark
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Cell Culture Techniques - methods Cell Line Gene Deletion Glucosylceramidase - genetics Homozygote Human Embryonic Stem Cells - enzymology Humans Loss of Function Mutation - genetics
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Beschreibung
Zusammenfassung:	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.
ISSN:	1873-5061 1876-7753
DOI:	10.1016/j.scr.2017.07.009