Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease

Maximilian Breyer; Thomas Klein; Katharina Klug; Eva Klopocki; Nurcan Üçeyler

doi:10.1016/j.scr.2022.102747

Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease

Stem Cell Res. 2022 May:61:102747. doi: 10.1016/j.scr.2022.102747. Epub 2022 Mar 14.

Authors

Maximilian Breyer¹, Thomas Klein¹, Katharina Klug¹, Eva Klopocki², Nurcan Üçeyler³

Affiliations

¹ Department of Neurology, University of Würzburg, 97080 Würzburg, Germany.
² Institute for Human Genetics, University of Würzburg, 97074 Würzburg, Germany.
³ Department of Neurology, University of Würzburg, 97080 Würzburg, Germany. Electronic address: ueceyler_n@ukw.de.

PMID: 35325818
DOI: 10.1016/j.scr.2022.102747

Abstract

Human dermal fibroblasts (HDF) were obtained by skin punch biopsy from a 51-year old man with suspected Fabry disease (FD), carrying the hemizygous c.376A > G variant in the α-galactosidase A gene (GLA). Cultured HDF were reprogrammed to induced pluripotent stem cells (iPSC) using a non-modified RNA-based transfection protocol. GLA-S126G-iPSC exhibit typical embryonic stem cell-like morphology, normal karyotype, expression of all tested pluripotency markers, and three germ layer differentiation potential. We provide a novel patient-specific cell line that can be used to investigate a genetic variation of yet unknown significance.

Keywords: Fabry disease; Fibroblasts; Reprogramming; iPSC.

Publication types

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

MeSH terms

Fabry Disease* / genetics
Fabry Disease* / pathology
Galactosidases / genetics
Galactosidases / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Male
Middle Aged
Mutation / genetics
Virulence

Substances

Galactosidases