Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
(2019) In Stem Cell Research 41.- Abstract
- 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/82fe1b2f-2196-4cdb-b9a9-b5bb46250b22
- author
- Benetó, Noelia ; Cozar, Monica ; García-Morant, María ; Creus-Bachiller, Edgar ; Vilageliu, Lluïsa ; Grinberg, Daniel and Canals, Isaac LU
- organization
- publishing date
- 2019-12
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Acetyltransferases/genetics, Base Sequence, CRISPR-Cas Systems/genetics, Cell Culture Techniques/methods, Heterozygote, Humans, Induced Pluripotent Stem Cells/cytology, Male, Models, Biological, Mucopolysaccharidosis III/pathology, Mutation/genetics, Reproducibility of Results
- in
- Stem Cell Research
- volume
- 41
- article number
- 101616
- publisher
- Elsevier
- external identifiers
-
- scopus:85074693382
- pmid:31731183
- ISSN
- 1876-7753
- DOI
- 10.1016/j.scr.2019.101616
- language
- English
- LU publication?
- yes
- id
- 82fe1b2f-2196-4cdb-b9a9-b5bb46250b22
- date added to LUP
- 2023-02-06 23:03:28
- date last changed
- 2024-03-22 19:01:32
@article{82fe1b2f-2196-4cdb-b9a9-b5bb46250b22, abstract = {{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.}}, author = {{Benetó, Noelia and Cozar, Monica and García-Morant, María and Creus-Bachiller, Edgar and Vilageliu, Lluïsa and Grinberg, Daniel and Canals, Isaac}}, issn = {{1876-7753}}, keywords = {{Acetyltransferases/genetics; Base Sequence; CRISPR-Cas Systems/genetics; Cell Culture Techniques/methods; Heterozygote; Humans; Induced Pluripotent Stem Cells/cytology; Male; Models, Biological; Mucopolysaccharidosis III/pathology; Mutation/genetics; Reproducibility of Results}}, language = {{eng}}, publisher = {{Elsevier}}, series = {{Stem Cell Research}}, title = {{Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome}}, url = {{http://dx.doi.org/10.1016/j.scr.2019.101616}}, doi = {{10.1016/j.scr.2019.101616}}, volume = {{41}}, year = {{2019}}, }