RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients

Yen Hua Huang, Tzu Chien Su, Chung Hsing Wang, Siew Lee Wong, Yin Hsiu Chien, Yu Tai Wang, Wuh Liang Hwu, Ni Chung Lee*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish
Article number265
JournalScientific data
Volume8
Issue number1
DOIs
StatePublished - Dec 2021

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