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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Detalles Bibliográficos
Autores: Benetó, Noelia, Cozar, Mónica, Gort i Mas, Laura, Pacheco, Laura, Vilageliu i Arqués, Lluïsa, Grinberg Vaisman, Daniel Raúl, Canals Montferrer, Isaac
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/177895
Acceso en línea:https://hdl.handle.net/2445/177895
Access Level:acceso abierto
Palabra clave:Mucopolisacàrids
Malalties neurodegeneratives
Mucopolysaccharides
Neurodegenerative Diseases
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spelling Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndromeBenetó, NoeliaCozar, MónicaGort i Mas, LauraPacheco, LauraVilageliu i Arqués, LluïsaGrinberg Vaisman, Daniel RaúlCanals Montferrer, IsaacMucopolisacàridsMalalties neurodegenerativesMucopolysaccharidesNeurodegenerative DiseasesMutations 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.Elsevier B.V.2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/177895Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1016/j.scr.2019.101668Stem Cell Research, 2020, vol. 42, p. 101668https://doi.org/10.1016/j.scr.2019.101668cc-by (c) Benetó, Noelia et al., 2019https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1778952026-05-27T06:46:51Z
dc.title.none.fl_str_mv Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
title Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
spellingShingle Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
Benetó, Noelia
Mucopolisacàrids
Malalties neurodegeneratives
Mucopolysaccharides
Neurodegenerative Diseases
title_short Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
title_full Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
title_fullStr Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
title_full_unstemmed Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
title_sort Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome
dc.creator.none.fl_str_mv Benetó, Noelia
Cozar, Mónica
Gort i Mas, Laura
Pacheco, Laura
Vilageliu i Arqués, Lluïsa
Grinberg Vaisman, Daniel Raúl
Canals Montferrer, Isaac
author Benetó, Noelia
author_facet Benetó, Noelia
Cozar, Mónica
Gort i Mas, Laura
Pacheco, Laura
Vilageliu i Arqués, Lluïsa
Grinberg Vaisman, Daniel Raúl
Canals Montferrer, Isaac
author_role author
author2 Cozar, Mónica
Gort i Mas, Laura
Pacheco, Laura
Vilageliu i Arqués, Lluïsa
Grinberg Vaisman, Daniel Raúl
Canals Montferrer, Isaac
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Mucopolisacàrids
Malalties neurodegeneratives
Mucopolysaccharides
Neurodegenerative Diseases
topic Mucopolisacàrids
Malalties neurodegeneratives
Mucopolysaccharides
Neurodegenerative Diseases
description 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.
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/177895
url https://hdl.handle.net/2445/177895
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2019.101668
Stem Cell Research, 2020, vol. 42, p. 101668
https://doi.org/10.1016/j.scr.2019.101668
dc.rights.none.fl_str_mv cc-by (c) Benetó, Noelia et al., 2019
https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Benetó, Noelia et al., 2019
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier B.V.
publisher.none.fl_str_mv Elsevier B.V.
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.301603

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