GBA1 Knockout Cell Line (Hela)

The choice depends on whether you are studying GBA1 (β-glucocerebrosidase, GCase)'s role as the lysosomal glucocerebroside hydrolase or modeling Gaucher disease and GBA1-associated Parkinson's disease risk. The Knockout line is the standard tool for asking whether GBA1 is required for these processes — GBA1 is a lysosomal hydrolase that cleaves the β-glycosidic bond of glucosylceramide (glucocerebroside) to generate ceramide and glucose; GBA1 deficiency causes intra-lysosomal accumulation of glucocerebroside (Gaucher disease) and is the strongest genetic risk factor for Parkinson's disease (heterozygous GBA1 mutations confer ~5-fold PD risk). Overexpression is useful for studying GBA1 in heterologous expression contexts. For lysosomal storage disease and Parkinson's research, the EDITGENE GBA1 Knockout in HeLa is highly informative — HeLa's flat morphology makes it ideal for imaging-based lysosomal studies. Rescue with wild-type or patient-derived mutant (N370S, L444P, RecNciI) GBA1 enables disease genotype-function studies of Gaucher disease and GBA1-PD. This product complements the parallel GBA1 Knockout in HEK293 (also available). The knockout is a critical specificity control for imiglucerase/Cerezyme, velaglucerase alfa, taliglucerase alfa (recombinant GCase enzyme replacement therapy), ambroxol (clinically-evaluated GCase pharmacological chaperone for GBA1-PD), and emerging GBA1-targeted PD therapeutics.

Primary applications: • Glucocerebrosidase activity: cellular GCase activity assays using fluorogenic substrates (4-MU-Glc) in GBA1-null versus rescued cells. • Glucosylceramide accumulation: GlcCer levels by LC-MS to characterize substrate accumulation. • Lysosomal biology: imaging-based lysosomal morphology, lyso-tracker staining, and lysosomal pH analysis given HeLa's flat morphology. • Gaucher and GBA1-PD modeling: rescue with N370S, L444P, RecNciI, and other patient-derived GBA1 mutations for genotype-function studies. • Therapeutic specificity: imiglucerase/Cerezyme, ambroxol, miglustat, eliglustat sensitivity testing as critical specificity controls. EDITGENE recommends this HeLa-based model for imaging-based lysosomal and Gaucher research; the parallel GBA1 Knockout in HEK293 (also available) is preferred for biochemistry.

Yes. GBA1 rescue experiments are well-established for lysosomal research: • Construct design: use a codon-modified GBA1 sequence with a small C-terminal tag (FLAG, HA). GBA1 has N-terminal signal peptide (cleaved), TIM-barrel catalytic domain — N-terminal tags must not disrupt signal peptide processing and lysosomal trafficking. • Lysosomal localization validation: confirm LAMP1 co-localization before functional assays. • Catalytically-dead rescue: E235A/E340A active site glutamate mutations abolish hydrolase activity. • Patient mutation rescue: N370S (mild Gaucher Type 1), L444P (severe Type 2/3), and RecNciI mutations for disease genotype-function studies. • Functional readout: rescue should restore GCase activity (4-MU-Glc cleavage) and reduce GlcCer accumulation. HeLa transduces efficiently with lentivirus and supports imaging-based rescue analysis.