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Series GSE200386 Query DataSets for GSE200386
Status Public on Sep 30, 2023
Title Gene expression and functional analysis of GJB2 mutated HaCaT cell lines [D66H]
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Vohwinkel syndrome, VS (OMIM#124500), a rare autosomal dominant genetic disease, with less than 50 reported cases in the literature. Although clinical symptoms of VS are complex, which are caused by GJB2 mutation is more typical.
To explore related differential genes and signaling pathways of Vohwinkel syndrome (VS) caused by mutations of GJB2. Human Gene Expression Array of two types of GJB2-VS mutated (G130V and D66H) HaCaT cell lines and identified distinct classes of up- and down- regulated genes during this process.
 
Overall design Using GJB2 gene mutant p.Asp66His(D66H) primers as templates, the corresponding cDNA sequence of GJB2: NM_004004 (D66H) was amplified respectively, and then was ligated with GV308 vector. The recombinant plasmids D66H-GV308, and empty vector GV308 were identified and sequenced. Then GJB2-D66H-overexpression lentiviruses. Human Gene Expression Array of two types of GJB2-VS mutated (D66H) and NC HaCaT cell lines for RNA extraction and hybridization on Affymetrix microarrays. And combined Ingenuity Pathway Analysis, combined apoptosis experiment, mRNA expression of LOR, FLG, and differentially expressed genes.
 
Contributor(s) Zhang L, GUO K
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Submission date Apr 07, 2022
Last update date Sep 30, 2023
Contact name Li Zhang
E-mail(s) zhangliwenzhe@medmail.com.cn
Organization name Department of Dermatology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan
Street address Department of Dermatology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250021, China.
City Jinan
ZIP/Postal code 250021
Country China
 
Platforms (1)
GPL15207 [PrimeView] Affymetrix Human Gene Expression Array
Samples (6)
GSM6032500 The HaCaT cell lines, overexpression lentiviruses empty vectors 1
GSM6032501 The HaCaT cell lines, overexpression lentiviruses empty vectors 2
GSM6032502 The HaCaT cell lines, overexpression lentiviruses empty vectors 3
This SubSeries is part of SuperSeries:
GSE200387 Gene expression and functional analysis of GJB2 mutated HaCaT cell lines
Relations
BioProject PRJNA824434

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE200386_FilteredData-D66H.xlsx 9.5 Mb (ftp)(http) XLSX
GSE200386_RAW.tar 12.2 Mb (http)(custom) TAR (of CEL)
Processed data included within Sample table
Processed data are available on Series record

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