GEO DataSets

(Submitter supplied) 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.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL6244

5 Samples

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(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html June 03, 2009: annotation table updated with netaffx build 28 June 18, 2012: annotation table updated with netaffx build 32 July 01, 2016: annotation table updated with netaffx build 35 Protocol: See manufacturer's web site

Organism:

Homo sapiens

136 DataSets

1879 Series

27 Related Platforms

38399 Samples

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