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- W2912955025 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" @default.
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- W2912955025 date "2019-02-01" @default.
- W2912955025 modified "2023-09-27" @default.
- W2912955025 title "Gaucher disease and associated plasma cell neoplasia: A diagnostic dilemma" @default.
- W2912955025 doi "https://doi.org/10.1016/j.ymgme.2018.12.330" @default.
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