Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene
2025
Nayeon Lee | Haneul Noh | Chong Kun Cheon
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 mononuclear cells (PBMCs) from a patient diagnosed with Sanfilippo syndrome carrying the mutation c.[706G>A(p.Asp235Asn)];c.[449G>A (p.Arg150Gln)] in the SGSH gene. We successfully generated an induced pluripotent stem cell (iPSC) line from isolated patient PBMCs using a non-integrative Sendai virus method. The hiPSCs displayed characteristics of embryonic stem cells, showed the ability to differentiate into three germ layers, and presented a normal karyotype.
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