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Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation

Authors :
Shih-Ping Liu
Yu-Hung Hsu
Ching-Ying Huang
Ming-Ching Ho
Yu-Che Cheng
Cheng-Hao Wen
Huai-En Lu
Chon-Haw Tsai
Woei-Cherng Shyu
Patrick C.H. Hsieh
Source :
Stem Cell Research, Vol 28, Iss , Pp 39-43 (2018)
Publication Year :
2018
Publisher :
Elsevier, 2018.

Abstract

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
28
Issue :
39-43
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.1bf9b454a24419c8c5994688cc5aa91
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2018.01.024