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


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 disease types were reprogrammed using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit. iPSCs were characterized for pluripotency, three germ-layer differentiation, normal karyotype and absence of viral components. These cell lines represent a valuable resource to model sialidosis and to screen for therapeutics. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Han MJ, Annunziata I, Weesner J, Campos Y, Salie M, O'Reilly C, d'Azzo A
Journal Stem cell research
Publication Date 2020 Jul;46:101836
PubMed 32485644
PubMed Central PMC7446138
DOI 10.1016/j.scr.2020.101836

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