RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
Journal
Scientific Data
Journal Volume
8
Journal Issue
1
Pages
265
Date Issued
2021
Author(s)
Abstract
Illumina RNA-seq analysis was used to characterize the whole transcriptomes of peripheral blood mononuclear cells (PBMCs) from patients with congenital generalized lipodystrophy. RNA-seq information for seven patients with type 2 congenital generalized lipodystrophy (CGL2; Berardinelli-Seip congenital lipodystrophy, BSCL2) was obtained and compared with similar information for seven age- and sex-matched healthy control subjects. All seven CGL2 patients carried biallelic pathogenic mutations affecting the BSCL2 gene and had clinical symptoms of varying severity. The findings provide the whole-transcriptome signatures of PBMCs of CGL2 patients, allowing further exploration of gene expression patterns/signatures associated with the various clinical symptoms of patients with this disease. ? 2021, The Author(s).
SDGs
Other Subjects
transcriptome; adolescent; child; congenital generalized lipodystrophy; female; genetics; high throughput sequencing; human; male; mononuclear cell; preschool child; young adult; Adolescent; Child; Child, Preschool; Female; High-Throughput Nucleotide Sequencing; Humans; Leukocytes, Mononuclear; Lipodystrophy, Congenital Generalized; Male; RNA-Seq; Transcriptome; Young Adult
Publisher
Nature Research
Type
data paper