RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patient...
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
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London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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 • RNA
Technology Type(s)
Illumina HiSeq. 2500 • RNA sequencing
Sample Characteristic - Organism
Homo sapiens
Machine-accessible metadata file describing the reported data:
https://doi.org/10.6084/m9.figshare.15022521...
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Full title
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
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TN_cdi_doaj_primary_oai_doaj_org_article_dfd184f6e423491a94f604ea86e277d6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_dfd184f6e423491a94f604ea86e277d6
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ISSN
2052-4463
E-ISSN
2052-4463
DOI
10.1038/s41597-021-01040-4
