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Article

Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.

Stem cell research - 1 Jul 2020

Han Min-Joon, Annunziata Ida, Weesner Jason, Campos Yvan, Salie Muneeb, O'Reilly Carla, d'Azzo Alessandra

Abstract excerpt

Sialidosis is an autosomal recessive lysosomal storage disease, belonging to the glycoproteinoses. The disease is caused by deficiency of the sialic acid-cleaving enzyme, sialidase 1 or neuraminidase 1 (NEU1). Patients with sialidosis are classified based on the age of onset and severity of the clinical symptoms into type I (normomorphic) and type II (dysmorphic). Patient-derived skin fibroblasts from both...

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Identifiers

PMID: 32485644
DOI: 10.1016/j.scr.2020.101836
PMCID: PMC7446138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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