Journal
STEM CELL RESEARCH
Volume 46, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2020.101836
Keywords
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Funding
- Jewelers for Children Endowed Chair in Genetics and Gene Therapy
- NIH [GM104981]
- Assisi Foundation of Memphis
- American Lebanese Syrian Associated Charities (ALSAC)
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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 (TM)-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.
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