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

Alexander Rodriguez-Lopez; Xiuli Huang; Catherine Chen; Jizhong Zou; Wei Zheng; Guibin Chen

doi:10.1016/j.scr.2024.103612

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

Stem Cell Res. 2024 Nov 16:81:103612. doi: 10.1016/j.scr.2024.103612. Online ahead of print.

Authors

Alexander Rodriguez-Lopez¹, Xiuli Huang¹, Catherine Chen¹, Jizhong Zou², Wei Zheng¹, Guibin Chen³

Affiliations

¹ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
² iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
³ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: Guibin.chen@nih.gov.

PMID: 39579553
DOI: 10.1016/j.scr.2024.103612

Abstract

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.