1. RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
- Author
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Siew-Lee Wong, Yen-Hua Huang, Ni-Chung Lee, Tzu-Chien Su, Yin-Hsiu Chien, Yu-Tai Wang, Wuh-Liang Hwu, and Chung Hsing Wang
- Subjects
Statistics and Probability ,Male ,Data Descriptor ,Adolescent ,BSCL2 ,Science ,RNA-Seq ,Disease ,Library and Information Sciences ,Peripheral blood mononuclear cell ,Education ,Transcriptome ,Congenital generalized lipodystrophy ,Young Adult ,Lipodystrophy, Congenital Generalized ,Gene expression ,Medicine ,Humans ,Child ,business.industry ,Congenital Generalized Lipodystrophy Type 2 ,Endocrine system and metabolic diseases ,High-Throughput Nucleotide Sequencing ,medicine.disease ,Computer Science Applications ,Child, Preschool ,Immunology ,Leukocytes, Mononuclear ,Female ,Statistics, Probability and Uncertainty ,business ,Information Systems - 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., Measurement(s)RNA-Seq • RNATechnology Type(s)Illumina HiSeq. 2500 • RNA sequencingSample Characteristic - OrganismHomo sapiens Machine-accessible metadata file describing the reported data: 10.6084/m9.figshare.15022521
- Published
- 2021