Pluto Bioinformatics

GSE72589: Transcriptome-wide Quantitative Analysis of XLPDR-derived human dermal fibroblasts with POLA1 deficiency

Bulk RNA sequencing

The goal of this study is to analyzed transcriptome changes caused by POLA1 deficiency. Our data represents the first detailed analysis of molecular basis of XLPDR syndrome. We report than POLA1 deficiency leads to over-activation of IRF and NF-kB pathways with overexpression of typical markers of autoimmune syndromes. SOURCE: Igor,M,Dozmorov (igor.dozmorov@utsouthwestern.edu) - UT Southwestern Medical Center