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Series GSE136353 Query DataSets for GSE136353
Status Public on Aug 27, 2019
Title Single-cell sequencing reveals the relationship between phenotypes and genotypes of Klinefelter syndrome
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary One of the most common congenital disorders of male infertility is Klinefelter syndrome. Because of its extreme heterogeneity in clinical and genetic presentation, the relationship between transcriptome and the clinical phenotype and the associated co-morbidities seen in KS has not been fully clarified yet. We reported here a 47 XXY karyotype Chinese male (KS) with infertility and analyzed the differences in gene expression patterns of peripheral blood mononuclear cells (PBMCs) from a Chinese male and a female control with normal karyotype by single-cell sequencing. We analyzed a total of 24,439 cells and divided them into 5 immune cell types (including B cell, T cell, macrophage cell, dendritic cell, and natural killer cell) according to the marker genes. Using unsupervised dimensionality reduction and clustering algorithms, we identified molecularly distinct subpopulations of cells between KS and both controls. Gene ontology enrichment analyses yielded terms associated with well-known comorbidities seen in KS as well as an affected immune system, type I diabetes mellitus. Based on our data, we point towards several candidate genes, which may be implicated in the phenotype of KS. Overall, our analysis showed a comprehensive map of the cell types of the PBMCs of KS patient at the single-cell level, which will contribute to preventing comorbidity and improving the life quality of KS patients.
Overall design sequenced PBMCs from a Chinese male with Klinefelter syndrome by using single-cell sequencing technology
Contributor(s) Liu X, Tang D
Citation(s) 31630146
Submission date Aug 26, 2019
Last update date Nov 28, 2019
Contact name george yue
Phone 15013803759
Organization name Genergy Bio-technology (Shanghai) Co., Ltd
Street address Room 4B, the 3rd Building, No. 401, Caobao Road, Xuhui District, Shanghai, China, 200233
City shanghai
ZIP/Postal code 200233
Country China
Platforms (1)
GPL24676 Illumina NovaSeq 6000 (Homo sapiens)
Samples (1)
GSM4047173 A Klinefelter syndrome Chinese adult male_scRNAseq
BioProject PRJNA562283
SRA SRP219668

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Supplementary file Size Download File type/resource
GSE136353_RAW.tar 23.8 Mb (http)(custom) TAR (of TXT)
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Raw data are available in SRA
Processed data provided as supplementary file

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