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- Inventor Info
|Antigen/Gene or Protein Targets||NDUFS2|
|Disease Keywords||Leighs; Mitochondrial disease; cardiomyopathy; encephalomyopathy|
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:
-Miscellaneous: basal ganglia and brainstem lesions, seizures, hypotonia, neonatal hypotonia, amaurosis, nystagmus, dysmorphic features, epilepsy and signs of brainstem involvement, and lactic acidosis.
|Production Details||The cell line is currently stored at Virginia Tech. By culturing approximately 1 million frozen cells in growth media, approximately 40 million cells can be harvested in a two weeks time.|
|Research Area||Apoptosis and Programmed Cell Death, Cardiovascular, Drug Discovery & Development, Metabolism|
|Growth/Phenotype Keywords||The mutant grows much slower than the parent cell line. The doubling time of the mutant is 3 times higher than that of the parent cell line.|
|Recommended Growing Conditions||DMEM medium supplemented with 10% Fetal Bovine Serum and 1% Penicillin-Streptomycin at 37ºC temperature and 5-6% CO2.|
|Positive Control||HEK293 parent line|
CRISPR edited HEK293 cells.
Cancer Research Technology Limited (trading research tools as Ximbio) has been granted a non-exclusive license to the CRISPR-Cas9 technology by ERS Genomics Ltd under the patent rights listed here.
This license from ERS Genomics Ltd allows Ximbio to develop and commercialise CRISPR-Cas9 modified cell lines for research use only. Ximbio can provide these modified CRISPR-Cas9 cell lines to companies under a label-use only license.
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