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

Benetó, Noelia ; Cozar, Monica ; García-Morant, María ; Creus-Bachiller, Edgar ; Vilageliu, Lluïsa ; Grinberg, Daniel and Canals, Isaac LU (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.
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organization
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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
2025-04-04 14:19:51
@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}},
}