@article{
 title = {Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations},
 type = {article},
 year = {2020},
 volume = {46},
 id = {fd8b86bd-42eb-30fd-a8e5-9ee8bea369b9},
 created = {2020-08-28T12:24:30.931Z},
 file_attached = {false},
 profile_id = {5f2c5af9-e641-3116-9747-e42573e0b3b9},
 last_modified = {2020-08-28T12:24:30.931Z},
 read = {false},
 starred = {false},
 authored = {true},
 confirmed = {false},
 hidden = {false},
 private_publication = {false},
 abstract = {© 2020 The Author(s) 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.},
 bibtype = {article},
 author = {Han, M.-J. and Annunziata, I. and Weesner, J. and Campos, Y. and Salie, M. and O'Reilly, C. and d'Azzo, A.},
 doi = {10.1016/j.scr.2020.101836},
 journal = {Stem Cell Research}
}

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