CBS Knockout Cell Line (HEK293)

The choice depends on whether you are studying CBS (cystathionine β-synthase)'s role as the initiating enzyme of transsulfuration and a major H₂S-generating enzyme or modeling homocystinuria. The Knockout line is the standard tool for asking whether CBS is required for these processes — CBS catalyzes the first step of transsulfuration (homocysteine + serine → cystathionine), committing methionine-derived homocysteine to cysteine biosynthesis; CBS is one of three principal H₂S-generating enzymes (with CTH/CSE and 3-MST/MPST), and CBS uses pyridoxal-5'-phosphate (PLP, vitamin B6 derivative) as cofactor. Overexpression is useful for studying CBS gain-of-function effects. For transsulfuration and H₂S biology research, the EDITGENE CBS Knockout in HEK293 enables study of CBS biology. This product complements the parallel CTH Knockout in A-549 (also available) for complete transsulfuration axis dissection — CBS catalyzes the first step (homocysteine → cystathionine), while CTH catalyzes the second step (cystathionine → cysteine + H₂S). CBS biallelic loss-of-function causes ⭐ classical homocystinuria (autosomal recessive, often pyridoxine-responsive due to PLP cofactor); pyridoxine therapy ameliorates ~50% of patients. Rescue with wild-type or PLP-binding-deficient CBS enables structure-function studies. The knockout is valuable for studying homocystinuria mechanisms and emerging CBS-targeted therapeutics — ⭐ pegtibatinase/EnzymeRx OT-58 enzyme replacement (in Phase III for classical homocystinuria) is an emerging therapy.

Primary applications: • Transsulfuration biology: homocysteine, cystathionine, cysteine, and GSH levels analysis by LC-MS in CBS-null cells. • H₂S production: cellular H₂S quantification by fluorescent probes given CBS's role as one of three H₂S-generating enzymes. • Homocystinuria modeling: rescue with patient-derived CBS mutations (e.g., I278T pyridoxine-responsive, G307S pyridoxine-non-responsive) for classical homocystinuria disease modeling. • Pyridoxine responsiveness studies: pyridoxine/B6 supplementation effect analysis with different CBS variants. • Complete transsulfuration axis: paired analysis with CTH Knockout in A-549 (also available) for complete CBS→CTH dissection. EDITGENE recommends this model for researchers investigating transsulfuration biology, classical homocystinuria mechanisms, H₂S signaling, and emerging CBS-targeted enzyme replacement therapy (⭐ pegtibatinase Phase III).

Yes. CBS rescue experiments are well-established for homocystinuria research: • Construct design: use a codon-modified CBS sequence with a small C-terminal tag (FLAG, HA). CBS has N-terminal heme-binding regulatory domain (CBS is uniquely heme-regulated), central PLP-binding catalytic domain, and C-terminal Bateman/CBS domain (SAM allosteric regulation) — preserve all elements. • Catalytically-dead rescue: PLP-binding lysine mutations abolish catalytic activity. • Patient mutation rescue: I278T (pyridoxine-responsive, most common variant), G307S (pyridoxine-non-responsive) for classical homocystinuria modeling — these variants distinguish therapy-responsive vs unresponsive patients. • Functional readout: rescue should restore homocysteine clearance and cystathionine production. HEK293 transduces efficiently with lentivirus and supports stable rescue line generation.