Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease
oleh: Janine Petters, Chiara Cimmaruta, Katharina Iwanov, Matthew L. Chang, Christin Völkner, Gudrun Knuebel, Hugo Murua Escobar, Moritz J. Frech, Andreas Hermann, Arndt Rolfs, Jan Lukas
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-03-01 |
Deskripsi
Wilson disease (WD) is an inherited, autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. Pathogenic single nucleotide variants (SNVs) lead to functional impairment of the copper transporting ATPase ATP7B, resulting in copper accumulation and toxicity in the liver and brain. We describe the generation of two induced pluripotent stem cell (iPSC) lines derived from fibroblasts of two female WD patients. Patient 1 is compound heterozygous for p.E1064A and p.H1069Q. Patient 2 is homozygous for p.M769V. These iPSCs represent a WD model for pathophysiological studies and pharmacological screening.