This technology includes a plasmid with the full length ATP-binding cassette transporter A3 (ABCA3) cDNA cloned into the pAcGFP1-N1 vector and another plasmid with the ABCA3-GFP cDNA inserted into the pShuttle vector. Mutations in ABCA3 lead to severe neonatal respiratory distress syndrome and childhood interstitial lung disease. These plasmids were used in a study on the pathogenicity of two mutant ABCA3 alleles (R288K and R1474W), which found that both mutations encode proteins with reduced ATPase activity but normal intracellular localization and protein processing.
