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Stem Cell Res. 2019 Mar;35:101336. doi: 10.1016/j.scr.2018.10.021. Epub 2018 Nov 18.

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.

Author information

1
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
2
Department of Neuropediatrics, Children's University Hospital, Tübingen, Germany.
3
German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
4
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address: rebecca.schuele-freyer@uni-tuebingen.de.

Abstract

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.

PMID:
30606667
DOI:
10.1016/j.scr.2018.10.021
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