github link
Accession IconGSE24997

DNA microarrays of Wilson's disease patient-specific induced pluripotent stem cells

Organism Icon Homo sapiens
Sample Icon 5 Downloadable Samples
Technology Badge Icon Affymetrix Human Gene 1.0 ST Array (hugene10st)

Submitter Supplied Information

Description
Wilsons 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 Wilsons disease that bears the R778L Chinese hotspot mutation in the ATP7B gene.
PubMed ID
Total Samples
5

Samples

Show of 0 Total Samples
Filter
Add/Remove
Accession Code
Title
Specimen part
Processing Information
Additional Metadata
No rows found
Loading...