Human IARS (Isoleucine–tRNA ligase, cytoplasmic) ELISA KIT (HUFI05130)

Beyond the standard ELISA workflow, this Assay Genie kit supports studies of autosomal recessive IARS1-related growth delay syndrome, a rare multisystem condition linked to biallelic variants in the cytoplasmic isoleucyl-tRNA ligase gene. Clinical features reported in affected families include intrauterine growth restriction, microcephaly, sensorineural hearing loss, hypotonia, hepatopathy with elevated transaminases, and feeding difficulties in infancy. The pre-coated microplate ships with lyophilized reference standards, biotinylated detection antibody, streptavidin-HRP conjugate, wash buffer concentrate, TMB substrate, and stop solution, giving researchers a complete set of reagents for quantitative measurement. A standard curve is generated from the reconstituted standards run in duplicate, and unknown specimen concentrations are interpolated from the fitted curve. Sample handling guidance recommends aliquoting specimens before freezing, limiting freeze-thaw cycles, and avoiding hemolyzed or lipemic draws prior to the assay. The supplied wash buffer requires a 1:25 dilution before use. Unopened components should be refrigerated, and any diluted working antibody kept cold until use or frozen at –20 °C for longer hold periods. Investigators studying aminoacyl-tRNA synthetase enzymology, tRNA charging fidelity, hepatic protein translation, or translational stress responses in patient-derived lymphoblastoid and fibroblast lines will find the assay a useful tool for benchmarking IARS levels between affected and control cohorts.