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Title: | Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome |
Author: | Benetó, Noelia Cozar, Mónica Gort i Mas, Laura Pacheco, Laura Vilageliu i Arqués, Lluïsa Grinberg Vaisman, Daniel Raúl Canals Montferrer, Isaac |
Keywords: | Mucopolisacàrids Malalties neurodegeneratives Mucopolysaccharides Neurodegenerative Diseases |
Issue Date: | Jan-2020 |
Publisher: | Elsevier B.V. |
Abstract: | Mutations in the NAGLU gene cause Sanfilippo B syndrome (mucopolysaccharidosis IIIB), a rare lysosomal storage disorder whose main symptom is a severe and progressive neurodegeneration for which no treatment is still available. Here, we generated two homozygous NAGLU-mutated cell lines using CRISPR/Cas9 editing in a healthy human induced pluripotent stem cell (hiPSC) line. These novel cell lines express pluripotency specific markers and maintain their capability to differentiate into all three germ layers in vitro while exhibit a normal karyotype. These mutated lines in combination with the isogenic control line will be useful to model in vitro Sanfilippo B syndrome. |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2019.101668 |
It is part of: | Stem Cell Research, 2020, vol. 42, p. 101668 |
URI: | http://hdl.handle.net/2445/177895 |
Related resource: | https://doi.org/10.1016/j.scr.2019.101668 |
ISSN: | 1873-5061 |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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