Article
Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).
Stem cell research - 1 Dec 2020
Petters Janine, Völkner Christin, Krohn Saskia, Murua Escobar Hugo, Bullerdiek Jörn, Reuner Ulrike, Frech Moritz J, Hermann Andreas, Lukas Jan
Abstract excerpt
Wilson disease (WD) is a rare, monogenic disorder caused by mutations in the gene ATP7B. A loss of function of the expressed protein leads to excessive hepatic and cerebral copper storage. In this study, we present the generation of two induced pluripotent stem cell (iPSC) lines derived from fibroblasts of a clinically asymptomatic, chelator treated female WD patient carrying the common missense mutation p.H1069Q...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.