2026-04-17T12:14:07Zhttps://recercat.cat/oai/requestoai:recercat.cat:2445/1950272025-12-04T22:45:03Zcom_2072_1057col_2072_478825col_2072_478917
RECERCAT
author
Benetó, Noelia
author
Cozar, Mónica
author
García-Morant, María
author
Creus Bachiller, Edgar
author
Vilageliu i Arqués, Lluïsa
author
Grinberg Vaisman, Daniel Raúl
author
Canals Montferrer, Isaac
2023-03-10T15:32:29Z2023-03-10T15:32:29Z2019-10-242023-03-10T15:32:29Z
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.
cc-by (c) Benetó, Noelia et al., 2019 https://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
Malalties neurodegeneratives
Cèl·lules mare
Cariotips
Neurodegenerative Diseases
Stem cells
Karyotypes
Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion