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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.<\/jats:p>","DOI":"10.1038\/s41597-021-01040-4","type":"journal-article","created":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T17:43:34Z","timestamp":1634147014000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients"],"prefix":"10.1038","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7932-374X","authenticated-orcid":false,"given":"Yen-Hua","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzu-Chien","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung-Hsing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siew-Lee","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8802-5728","authenticated-orcid":false,"given":"Yin-Hsiu","family":"Chien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6677-2394","authenticated-orcid":false,"given":"Yu-Tai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh-Liang","family":"Hwu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5011-7499","authenticated-orcid":false,"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,13]]},"reference":[{"key":"1040_CR1","doi-asserted-by":"publisher","first-page":"e78644","DOI":"10.1371\/journal.pone.0078644","volume":"9","author":"S Zhao","year":"2014","unstructured":"Zhao, S., Fung-Leung, W. 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