HEK293ΔNDUFS2 Cell Line

The HEK293ΔNDUFS2 cell line expresses a CRISPR/Cas9 mutated NDUFS2, shown to significantly alter the function of complex I (CI) of the mitochondrial electron transport chain. This NDUFS2 mutant cell line displays disruptions to NDUFS2 that mimic isolated complex I deficiency and can be used as a powerful model of several types of mitochondrial disease.

 

Specific disruptions in the NDUFS2 gene have been reported to present clinically as the following disease conditions:
-Leigh syndrome
-Cardiomyopathy
-Encephalomyopathy
-Miscellaneous: basal ganglia and brainstem lesions, seizures, hypotonia, neonatal hypotonia, amaurosis, nystagmus, dysmorphic features, epilepsy and signs of brainstem involvement, and lactic acidosis.

 

This cell line is available from Ximbio; additional information and ordering details can be found here.

Patent Information:
For Information, Contact:
Rozzy Finn
Licensing Officer
Virginia Tech Intellectual Properties, Inc.
Rozzy@vt.edu
Inventors:
Aloka Bandara
David Brown
Keywords: