Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation
Summary
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 generate an induced pluripotent stem cell (iPSC) line carrying the A544G mutation combined with the 667-679 deletion of the NEU1 gene from a sialidosis patient. The patient-specific iPSCs expressed pluripotent markers, possessed a normal karyotype, and displayed the capability to differentiate into three germ layers. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Liu SP, Hsu YH, Huang CY, Ho MC, Cheng YC, Wen CH, Lu HE, Tsai CH, Shyu WC, Hsieh PCH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Apr;28:39-43 |
| PubMed | 29414417 |
| DOI | 10.1016/j.scr.2018.01.024 |