PLH Cells

The PLH cell line is an Epstein-Barr virus (EBV)-transformed human lymphoblastoid cell line derived from a patient with congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase (21-OHase) deficiency. This autosomal recessive disorder, which impairs cortisol biosynthesis, is strongly linked to specific HLA haplotypes, particularly HLA-Bw47;DR7. The PLH line is homozygous for this haplotype and has been used as a genetic model to investigate the molecular basis of 21-OHase deficiency. It is especially valuable in studying gene deletions affecting the cytochrome P-450C21 gene, which is responsible for 21-hydroxylation, a crucial step in cortisol production. Molecular analyses using DNA probes confirmed that PLH cells exhibit a homozygous deletion of one of the two P-450C21 genes, consistent with the loss of 21-hydroxylase activity observed in affected individuals. The PLH cell line was part of the Fourth Asia-Oceania Histocompatibility Workshop (4AOHW) panel, which aimed to provide a well-characterized set of EBV-transformed lymphoblastoid cell lines representing diverse MHC alleles and haplotypes. These panels serve as essential resources for histocompatibility studies, HLA typing development, and immunogenetics research. The selection of PLH for inclusion in the 4AOHW reflected its unique MHC genotype and disease relevance, contributing to both the standardization of HLA allele assignments and studies exploring the genetic architecture of immune-related disorders.