Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome

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/...

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Bibliographic Details
Authors: Benetó, Noelia, Cozar, Mónica, Gort i Mas, Laura, Pacheco, Laura, Vilageliu i Arqués, Lluïsa, Grinberg Vaisman, Daniel Raúl, Canals Montferrer, Isaac
Format: article
Status:Published version
Publication Date:2020
Country:España
Institution:Universidad de Barcelona
Repository:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/177895
Online Access:https://hdl.handle.net/2445/177895
Access Level:Open access
Keyword:Mucopolisacàrids
Malalties neurodegeneratives
Mucopolysaccharides
Neurodegenerative Diseases
Description
Summary: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.

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