Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
| Autor: | Daniel Grinberg, María García-Morant, Edgar Creus-Bachiller, Isaac Canals, Noelia Benetó, Mónica Cozar, Lluïsa Vilageliu |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Heterozygote Induced Pluripotent Stem Cells Cell Culture Techniques Stem cells Biology Compound heterozygosity Models Biological Mucopolysaccharidosis III Sanfilippo C syndrome Acetyltransferases Humans CRISPR Base sequence Induced pluripotent stem cell Cariotips Base Sequence Malalties neurodegeneratives Reproducibility of Results Neurodegenerative Diseases Heterozygote advantage Cell Biology General Medicine Molecular biology Mutation Karyotypes CRISPR-Cas Systems Cèl·lules mare Developmental Biology |
| Zdroj: | Stem Cell Research. 41:101616 |
| ISSN: | 1873-5061 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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