Journal Article

DZNE-2020-00434

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.

Petters, J. ; Cimmaruta, C. ; Iwanov, K. ; Chang, M. L. ; Völkner, C. ; Knuebel, G. ; Murua Escobar, H. ; Frech, M. J. ; Hermann, A.DZNE* ; Rolfs, A. ; Lukas, J. (Corresponding author)

2020
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.scr.2020.101708

Abstract: 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.

Keyword(s): Adult (MeSH) ; Female (MeSH) ; Hepatolenticular Degeneration: genetics (MeSH) ; Humans (MeSH) ; Induced Pluripotent Stem Cells: metabolism (MeSH)

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Contributing Institute(s):

1. Clinical Dementia Research (Rostock /Greifswald) (AG Teipel)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2020

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