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

Summary

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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Guan J, Tian G, Dong R, Zhang H, Yang X, Li Y, Gai Z, Liu Y
Journal Stem cell research
Publication Date 2021 Jan 29;52:102212
PubMed 33550137
DOI 10.1016/j.scr.2021.102212

Research Projects

Cell Lines