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| Status |
Public on Dec 01, 2010 |
| Title |
DNA microarrays of Wilson's disease patient-specific induced pluripotent stem cells |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Wilson’s disease (WD) is a relevant human genetic disease caused by mutations in the ATP7B gene, whose product is a liver enzyme responsible for copper export into bile and blood. Interestingly, the spectrum of ATP7B mutations is vast and can influence clinical presentation (a variable spectrum of hepatic and neural manifestations), though the reason for this is not well understood. Here we describe the successful generation of iPSCs from a Chinese patient with Wilson’s disease that bears the R778L Chinese hotspot mutation in the ATP7B gene.
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| Overall design |
Global gene expression profiling with DNA microarrays showed that WD iPSCs cluster together with human ESCs (H9) compared to donor fibroblasts. WD patient fibroblasts were isolated and expanded from a dermal biopsy of a middle age Chinese Han male, WD iPSCs were generated by overexpression of human Oct4/Sox2/Klf4/c-Myc in WD fibroblasts and expanded on Matrigel with mTESR1 culture medium. For DNA microarray analysis, WD fibroblasts (passage 5), 3 cell lines of WD iPSCs growing on Matrigel (passage 8) and human ES H9 growing on Matrigel (passage 40) were treated with Trizol, followed by RNA extraction and hybridization.
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| Contributor(s) |
Zhang S, Li W, He W, Pei D, Esteban MA |
| Citation(s) |
21593220 |
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| Submission date |
Oct 28, 2010 |
| Last update date |
Jul 26, 2018 |
| Contact name |
shiqiang zhang |
| E-mail(s) |
[email protected]
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| Organization name |
Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences
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| Street address |
190 Kai Yuan Avenue, Science Park
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| City |
Guangzhou |
| ZIP/Postal code |
510530 |
| Country |
China |
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| Platforms (1) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
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| Samples (5)
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| Relations |
| BioProject |
PRJNA131981 |
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