GBA1 Knockout Cell Line (HEK293)

The choice depends on whether you are studying GBA1 in a high-transfection-efficiency platform for systematic structure-function studies. The Knockout line is the standard tool for asking whether GBA1 is required for glucosylceramide hydrolysis — GBA1 is the principal lysosomal β-glucocerebrosidase, with crucial implications for Gaucher disease and GBA1-associated PD risk. Overexpression is useful for studying GBA1 in heterologous expression contexts. For systematic GBA1 biochemistry, the EDITGENE GBA1 Knockout in HEK293 is a workhorse mechanistic platform — HEK293 supports systematic structure-function studies of this lysosomal hydrolase. This product complements the parallel GBA1 Knockout in HeLa (also available); HEK293 is preferred for biochemistry and overexpression-based rescue, HeLa for imaging-based lysosomal studies. Rescue with wild-type or patient-derived mutant GBA1 enables disease genotype-function studies. The knockout is a critical specificity control for ERT and pharmacological chaperone therapy specificity testing.

Primary applications: • Glucocerebrosidase activity: cellular GCase activity assays using fluorogenic substrates in high-transfection HEK293 background. • Patient mutation rescue: rescue with N370S, L444P, and other patient-derived GBA1 mutations for systematic genotype-function studies. • Pharmacological chaperone studies: ambroxol and other GCase chaperones — folding rescue versus catalytic rescue dissection. • Enzyme replacement therapy uptake: in heterologous mannose-6-phosphate-receptor-relevant contexts, imiglucerase/Cerezyme cellular uptake. EDITGENE recommends this HEK293-based model for biochemical GBA1 research and structure-function studies; the parallel GBA1 Knockout in HeLa (also available) is preferred for imaging-based studies.

Yes. GBA1 rescue experiments in HEK293 are well-suited for systematic biochemistry: • Construct design: same considerations as GBA1/HeLa rescue — preserve signal peptide processing and lysosomal trafficking. • High-throughput rescue: HEK293's transfection efficiency supports systematic patient mutation library screening. • Pharmacological chaperone studies: rescue interpretation considers ambroxol-dependent folding rescue versus genetic rescue. • Functional readout: rescue should restore GCase activity measured by 4-MU-Glc cleavage assay. HEK293 transduces efficiently with lentivirus and supports stable rescue line generation.