Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome

Sanfilippo C syndrome (Mucopolysaccharidosis IIIC) is a rare lysosomal storage disorder caused by mutations in the HGSNAT gene. It is characterized by a progressive and severe neurodegeneration, for which there is no treatment available. Here, we report the generation of two HGSNAT-mutated cell line...

Descripción completa

Detalles Bibliográficos
Autores: Benetó, Noelia, Cozar, Mónica, García-Morant, María, Creus Bachiller, Edgar, Vilageliu i Arqués, Lluïsa, Grinberg Vaisman, Daniel Raúl, Canals Montferrer, Isaac
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/195027
Acceso en línea:https://hdl.handle.net/2445/195027
Access Level:acceso abierto
Palabra clave:Malalties neurodegeneratives
Cèl·lules mare
Cariotips
Neurodegenerative Diseases
Stem cells
Karyotypes
id ES_a77eb31ef9b8a1ca6f69132c8bbd2662
oai_identifier_str oai:recercat.cat:2445/195027
network_acronym_str ES
network_name_str España
repository_id_str
spelling Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndromeBenetó, NoeliaCozar, MónicaGarcía-Morant, MaríaCreus Bachiller, EdgarVilageliu i Arqués, LluïsaGrinberg Vaisman, Daniel RaúlCanals Montferrer, IsaacMalalties neurodegenerativesCèl·lules mareCariotipsNeurodegenerative DiseasesStem cellsKaryotypesSanfilippo C syndrome (Mucopolysaccharidosis IIIC) is a rare lysosomal storage disorder caused by mutations in the HGSNAT gene. It is characterized by a progressive and severe neurodegeneration, for which there is no treatment available. Here, we report the generation of two HGSNAT-mutated cell lines from a healthy human induced pluripotent stem cell (hiPSC) line using CRISPR/Cas9 editing. These novel cell lines have a normal karyotype, express pluripotency specific markers and have the capability to differentiate into all three germ layers in vitro. These hiPSC lines will be useful for the generation of in vitro models of Sanfilippo C syndrome.Elsevier B.V.2023202320192023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion5 p.application/pdfhttps://hdl.handle.net/2445/195027Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1016/j.scr.2019.101616Stem Cell Research, 2019, vol. 41, num. 101616, p. 1-5https://doi.org/10.1016/j.scr.2019.101616cc-by (c) Benetó, Noelia et al., 2019https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1950272026-05-29T05:05:01Z
dc.title.none.fl_str_mv Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
title Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
spellingShingle Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
Benetó, Noelia
Malalties neurodegeneratives
Cèl·lules mare
Cariotips
Neurodegenerative Diseases
Stem cells
Karyotypes
title_short Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
title_full Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
title_fullStr Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
title_full_unstemmed Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
title_sort Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
dc.creator.none.fl_str_mv Benetó, Noelia
Cozar, Mónica
García-Morant, María
Creus Bachiller, Edgar
Vilageliu i Arqués, Lluïsa
Grinberg Vaisman, Daniel Raúl
Canals Montferrer, Isaac
author Benetó, Noelia
author_facet Benetó, Noelia
Cozar, Mónica
García-Morant, María
Creus Bachiller, Edgar
Vilageliu i Arqués, Lluïsa
Grinberg Vaisman, Daniel Raúl
Canals Montferrer, Isaac
author_role author
author2 Cozar, Mónica
García-Morant, María
Creus Bachiller, Edgar
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 Malalties neurodegeneratives
Cèl·lules mare
Cariotips
Neurodegenerative Diseases
Stem cells
Karyotypes
topic Malalties neurodegeneratives
Cèl·lules mare
Cariotips
Neurodegenerative Diseases
Stem cells
Karyotypes
description Sanfilippo C syndrome (Mucopolysaccharidosis IIIC) is a rare lysosomal storage disorder caused by mutations in the HGSNAT gene. It is characterized by a progressive and severe neurodegeneration, for which there is no treatment available. Here, we report the generation of two HGSNAT-mutated cell lines from a healthy human induced pluripotent stem cell (hiPSC) line using CRISPR/Cas9 editing. These novel cell lines have a normal karyotype, express pluripotency specific markers and have the capability to differentiate into all three germ layers in vitro. These hiPSC lines will be useful for the generation of in vitro models of Sanfilippo C syndrome.
publishDate 2019
dc.date.none.fl_str_mv 2019
2023
2023
2023
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/2445/195027
url https://hdl.handle.net/2445/195027
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.2019.101616
Stem Cell Research, 2019, vol. 41, num. 101616, p. 1-5
https://doi.org/10.1016/j.scr.2019.101616
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 5 p.
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:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869415783143047168
score 15,811543

Similares en LA Referencia