COX Cells

The COX cell line is a reference B-lymphoblastoid cell line (B-LCL) derived from a human donor and transformed with Epstein-Barr virus (EBV). It is frequently used in immunogenetics and histocompatibility research due to its inclusion in the International Histocompatibility Working Group (IHWG) panels. The COX cell line represents a specific major histocompatibility complex (MHC) haplotype, HLA-A1-B8-Cw7-DR3-DQ2, associated with susceptibility to autoimmune diseases such as type 1 diabetes, systemic lupus erythematosus, and myasthenia gravis. This haplotype is notable for its high degree of linkage disequilibrium, making the cell line an essential model for studying MHC-related genetic associations.

The genomic sequence of the COX haplotype has been completely characterized as part of the MHC Haplotype Project. It spans approximately 4.8 Mb, encompassing the class I, II, and III regions of the MHC, as well as the extended class I region. Detailed sequencing revealed over 16,000 single nucleotide polymorphisms (SNPs) and numerous structural variations, providing insights into the genetic architecture of this region. The COX cell line’s comprehensive MHC characterization makes it a key resource for understanding immune system function and the genetic basis of HLA-associated diseases.

In research, the COX cell line is used for fine mapping of disease-associated loci within the MHC, as well as for functional studies on antigen processing and presentation. Its well-defined genetic profile allows for comparative studies with other MHC haplotypes, aiding in the identification of disease risk variants and potential therapeutic targets. Additionally, the cell line is involved in the evaluation of new sequencing and genotyping technologies, serving as a standard reference in immunogenetic studies.