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Series GSE159337 Query DataSets for GSE159337
Status Public on Aug 18, 2021
Title mRNA-seq read counts of peripheral blood mononuclear cells from congenital generalized lipodystrophy patients and their gender/aged-matched controls
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder characterized by defective adipose tissue, extreme insulin resistance, and early onset of diabetes. There are four types of congenital generalized lipodystrophy based on the causative genetic alterations. The symptoms and the degrees of disease progression are varied among all affected individuals, which might be due to unknown genetic modifiers. To identify potential predictive biomarkers associated with the disease progressions, we recruited 7 patients (cgl2_p1,cgl2_p2,cgl2_p3,cgl2_p4,cgl2_p5,cgl2_p6,cgl2_p7),as well as gender/aged-matched controls (cgl2_c1,cgl2_c2,cgl2_c3,cgl2_c4,cgl2_c5,cgl2_c6,cgl2_c7).The total RNA samples were extracted from the participants' peripheral blood mononuclear cells, followed by RNA-Seq. To find the molecular signatures that might be associated with disease progression, patients were further categorized into sub-groups based on the results of biochemical analysis and their clinical symptoms (e.g. diabetes, metabolic syndrome and metal retardation). DEGs were identified for each sub-groups of patients, and pathway analysis was performed to explore the underlying dysregulated mechanisms.
Overall design PBMC from 7 patients and 7 gender/aged-matched controls were extracted total RNA, followed by RNA-Seq.
Contributor(s) Huang Y, Su T, Wang C, Wong S, Chien Y, Wang Y, Hwu W, Lee N
Citation(s) 34645804
BioProject PRJNA662421
Submission date Oct 09, 2020
Last update date Nov 03, 2021
Contact name Yen-Hua Huang
Phone +886-2-28267982
Organization name National Yang-Ming University
Department Institute of Biomedical Informatics
Street address No. 155, Sec. 2, Li-Nong St., Beitou Dist
City Taipei City
ZIP/Postal code 11221
Country Taiwan
Platforms (1)
GPL16791 Illumina HiSeq 2500 (Homo sapiens)
Samples (14)
GSM4826878 cgl2_p1
GSM4826879 cgl2_p2
GSM4826880 cgl2_p3
SRA SRP283451

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Supplementary file Size Download File type/resource
GSE159337_rare_dis_read_count_ori.csv.gz 817.1 Kb (ftp)(http) CSV
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Raw data are available in SRA
Processed data are available on Series record

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