Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB.

Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive metabolic disorder caused by mutations in NAGLU gene, and characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. A human induced pluripotent stem cell line, SDQLCHi041-A was generated from peripheral blood mononuclear cells of a 4 years and 9 months old patient with MPS IIIB, who carried compound heterozygous mutation of c.1336G > A and c.608G > A in NAGLU gene. SDQLCHi041-A offers a useful cell model to investigate pathogenic mechanisms in MPS IIIB.