Journal article
Generation and characterization of two iPSC lines derived from subjects with free sialic acid storage disorder (FSASD)
- Abstract:
- Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5. Defects in SLC17A5 lead to lysosomal accumulation of free sialic acid and other acid hexoses. The clinical spectrum of FSASD ranges from mild (Salla disease) to severe infantile forms. The pathobiology underlying FSASD remains elusive. In this study, two induced pluripotent stem cell (iPSC) lines were generated from a mild and an intermediate FSASD patient and characterized to provide much-needed additional models for basic and translational studies.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 3.7MB, Terms of use)
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- Publisher copy:
- 10.1016/j.scr.2024.103600
Authors
+ National Human Genome Research Institute
More from this funder
- Funder identifier:
- https://ror.org/00baak391
- Publisher:
- Elsevier
- Journal:
- Stem Cell Research More from this journal
- Volume:
- 81
- Article number:
- 103600
- Publication date:
- 2024-10-22
- Acceptance date:
- 2024-10-20
- DOI:
- EISSN:
-
1876-7753
- ISSN:
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1873-5061
- Pmid:
-
39461116
- Language:
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English
- Keywords:
- Pubs id:
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2054309
- Local pid:
-
pubs:2054309
- Deposit date:
-
2024-12-02
Terms of use
- Copyright holder:
- Sabir et al.
- Copyright date:
- 2024
- Rights statement:
- Copyright © 2024 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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