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  • 标题:RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
  • 本地全文:下载
  • 作者:Huang, Yen-Hua ; Su, Tzu-Chien ; Wang, Chung-Hsing
  • 期刊名称:Scientific Data
  • 电子版ISSN:2052-4463
  • 出版年度:2021
  • 卷号:8
  • 期号:1
  • 页码:1-7
  • DOI:10.1038/s41597-021-01040-4
  • 语种:English
  • 出版社:Nature Publishing Group
  • 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.
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