Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene
Summary
Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in the NAGLU gene. It is characterized by progressive neurodegeneration, behavioral problems, and motor function difficulties. A human induced pluripotent stem cell (iPSC) TRNDi042-A line was generated from fibroblasts of a male patient with a homozygous p. R626X (c.1876C > T) in the NAGLU gene producing N-acetyl-glucosaminidase. This iPSC line is a useful resource to study disease pathophysiology and to develop therapeutics treatments. The cell line has a normal karyotype, is free of plasmid integration, and expresses high levels of pluripotency-associated markers. Published by Elsevier B.V.
| Authors | Rodriguez-Lopez A, Huang X, Chen C, Zou J, Zheng W, Chen G |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103612 |
| PubMed | 39579553 |
| DOI | 10.1016/j.scr.2024.103612 |