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Article

Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.

Stem cell research - 1 Apr 2018

Liu Shih-Ping, Hsu Yu-Hung, Huang Ching-Ying, Ho Ming-Ching, Cheng Yu-Che, Wen Cheng-Hao, Lu Huai-En, Tsai Chon-Haw, Shyu Woei-Cherng, Hsieh Patrick C H

Abstract excerpt

Sialidosis is a rare autosomal recessive disorder that affects the intralysosomal catabolism of sialylated glycoconjugates and is involved in cellular immune response. Mutations in NEU1, which encodes the sialidase enzyme, result in sialidosis. Sialidosis is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. In this study, we used Sendai virus reprogramming to...

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Identifiers

PMID: 29414417
DOI: 10.1016/j.scr.2018.01.024

Genes

NEU1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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