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

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.

SUBMITTER: Huang YH

PROVIDER: S-EPMC8514467 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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

Huang Yen-Hua YH Su Tzu-Chien TC Wang Chung-Hsing CH Wong Siew-Lee SL Chien Yin-Hsiu YH Wang Yu-Tai YT Hwu Wuh-Liang WL Lee Ni-Chung NC

Scientific data 20211013 1

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 affe ...[more]

PMID: 34645804

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