Researchers Develop New Cell Line to Determine the Pathogenicity of Variants of Found in Patients with Suspected VLCAD Deficiency

Results of a recent study published in Journal of Inherited Metabolic Disease¸ shows a new cell line that does not express any very long-chain acyl-CoA dehydrogenase (VLCAD) proteins. This allows researchers to determine the pathogenicity of many variants of uncertain significance found in patients with suspected VLCAD deficiency, a type of long chain fatty acid oxidation disorder (LCFAOD).

Here, a team of researchers led by Jerry Vockley, MD, PhD, FACMG, developed a HEK293T cell line where the ACADVL gene was removed using clustered, regularly interspaced, short palindromic repeats/Cas9 genome editing.

The full article can be found here.