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

ABSTRACT: 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. 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

ORGANISM(S): Homo sapiens

SUBMITTER: shiqiang zhang 

PROVIDER: E-GEOD-24997 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress