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Tae-Yun Kim

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Open access Oct 2026

Generation of a human induced pluripotent stem cell line (PNUYHi004-A) from a patient with hereditary spastic paraplegia type 46 (SPG46) carrying compound heterozygous GBA2 variants.

SPG46 is a rare autosomal recessive form of hereditary spastic paraplegia (HSP) caused by biallelic pathogenic variants in GBA2, encoding the non-lysosomal glucosylceramidase. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 40-year-old Korean patient with adult-ons...

Tae-Yun Kim, Nayeon Lee, Na-Ye-On Jung et al. · 0 citations

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