Generation of two iPSC lines derived from two unrelated patients with Gaucher disease
Summary
Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with neuronopathic forms of Gaucher disease. The donor for line iPSC-GBA-1, a 21 month old girl, carried the recurring GBA mutation c.1448 T > C, p.Leu483Pro at homozygous state; fibroblasts for line iPS-GBA-2 were obtained from a 4 year old girl compound heterozygous for the GBA mutations c.667 T > C, p.Trp223Arg and c.1226A > G, p.Asn409Ser. iPSCs were developed using integration free episomal vectors (OCT4, KLF4; L-MYC, SOX2 (OSKM) and LIN28). Resource table. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Nagel M, Reichbauer J, Böhringer J, Schelling Y, Krägeloh-Mann I, Schüle R, Ulmer U |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Mar;35:101336 |
| PubMed | 30606667 |
| DOI | 10.1016/j.scr.2018.10.021 |