Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene
Mucopolysaccharidosis Type IIIA (MPS IIIA), known as Sanfilippo syndrome type A, is a rare autosomal recessive lysosomal storage disorder caused by the mutations in the N-sulfoglucosamine Sulfohydrolase (SGSH) gene, encoding the enzyme heparan N-sulfatase (HNS). We obtained peripheral blood mononucl...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000406 |