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Generation of two c...
Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
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- Benetó, Noelia (författare)
- University of Barcelona
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- Cozar, Monica (författare)
- University of Barcelona
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- García-Morant, María (författare)
- University of Barcelona
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- Creus-Bachiller, Edgar (författare)
- University of Barcelona
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- Vilageliu, Lluïsa (författare)
- University of Barcelona
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- Grinberg, Daniel (författare)
- University of Barcelona
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- Canals, Isaac (författare)
- Lund University,Lunds universitet,Institutionen för experimentell medicinsk vetenskap,Medicinska fakulteten,Stamcellscentrum (SCC),Avdelningen för stamcellsforskning,Institutionen för laboratoriemedicin,Department of Experimental Medical Science,Faculty of Medicine,Stem Cell Center,Division of stem cell research,Department of Laboratory Medicine,Skåne University Hospital
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(creator_code:org_t)
- Elsevier BV, 2019
- 2019
- Engelska.
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Ingår i: Stem Cell Research. - : Elsevier BV. - 1876-7753 .- 1873-5061. ; 41
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- 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
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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