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| Status |
Public on Sep 30, 2023 |
| Title |
Gene expression and functional analysis of GJB2 mutated HaCaT cell lines [G130V] |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| 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 the GJB2-VS mutated (G130V) HaCaT cell lines and identified distinct classes of up- and down- regulated genes during this process.
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| Overall design |
Using GJB2 gene mutant p.Gly130Val(G130V) 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 G130V-GV308, and empty vector GV308 were identified and sequenced. Then GJB2-G130V and GJB2-D66H-overexpression lentiviruses. Human Gene Expression Array of the type of GJB2-VS mutated (G130V) 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.
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| Contributor(s) |
Zhang L, GUO K |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Apr 07, 2022 |
| Last update date |
Sep 30, 2023 |
| Contact name |
Li Zhang |
| E-mail(s) |
zhangliwenzhe@medmail.com.cn
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| Organization name |
Department of Dermatology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan
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| Street address |
Department of Dermatology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250021, China.
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| City |
Jinan |
| ZIP/Postal code |
250021 |
| Country |
China |
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| Platforms (1) |
| GPL15207 |
[PrimeView] Affymetrix Human Gene Expression Array |
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| Samples (6)
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| GSM6032482 |
The HaCaT cell lines, overexpression lentiviruses empty vectors 1 |
| GSM6032483 |
The HaCaT cell lines, overexpression lentiviruses empty vectors 2 |
| GSM6032484 |
The HaCaT cell lines, overexpression lentiviruses empty vectors 3 |
| GSM6032485 |
The HaCaT cell lines, overexpression of vectors of GJB2 gene mutant p.Gly130Val(G130V) 1 |
| GSM6032486 |
The HaCaT cell lines, overexpression of vectors of GJB2 gene mutant p.Gly130Val(G130V) 2 |
| GSM6032487 |
The HaCaT cell lines, overexpression of vectors of GJB2 gene mutant p.Gly130Val(G130V) 3 |
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| This SubSeries is part of SuperSeries: |
| GSE200387 |
Gene expression and functional analysis of GJB2 mutated HaCaT cell lines |
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| Relations |
| BioProject |
PRJNA824435 |
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