Generation of EBV-Transformed B-Cell Lines from CVID Patients with TACI Mutation

Reference #:

2007-259

Inventors/Contributors

Roshini Sarah Abraham, Ph.D.

Description

We have generated 2 B-cell lines from 2 individual CVID patients who have a specific mutation in the TACI gene. TACI gene mutations are associated with 10-15% of CVID cases. The A181E mutation has been described as being significantly associated with CVID patients compared to normal controls. EBV-transformation of B-cells has been traditionally used to immortalize patient cells and provide a ready source of cellular material for future research studies. The A181E mutation appears to be a relevant mutation that is associated with the CVID phenotype and having EBV-B-cells from patients with this mutation readily available enables biochemical and functional characterization of this mutation.

Patent Status

None