Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in Fabry disease

Stem Cell Res. 2023 Mar:67:103025. doi: 10.1016/j.scr.2023.103025. Epub 2023 Jan 9.

Authors

Katharina Klug¹, Maximilian Breyer¹, Eva Klopocki², Nurcan Üçeyler¹

Affiliations

¹ Department of Neurology, University of Würzburg, 97080 Würzburg, Germany.
² Institute for Human Genetics, University of Würzburg, 97074 Würzburg, Germany.

PMID: 36640471
DOI: 10.1016/j.scr.2023.103025

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Catalytic Domain
Fabry Disease* / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation
Phenotype
alpha-Galactosidase

Substances

GLA protein, human
alpha-Galactosidase