2026-04-13T01:29:38Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1950272025-12-04T22:45:03Zcom_2072_1057col_2072_478825col_2072_478917

00925njm 22002777a 4500 dc 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 author 2023-03-10T15:32:29Z 2023-03-10T15:32:29Z 2019-10-24 2023-03-10T15:32:29Z 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. 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