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*

*此作品的通信作者

研究成果: Article同行評審

摘要

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.

原文English
文章編號265
期刊Scientific data
8
發行號1
DOIs
出版狀態Published - 12月 2021

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