• Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Glu153Lys (c.457G>A); ClinVar=VCV001067431; Zygosity=Homozygous (Coriell=GM01426).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=30933722; DOI=10.1016/j.scr.2019.101427; PMCID=PMC6559735
Huang W., Xu M., Li R., Baskfield A., Kouznetsova J., Beers J.K., Zou J.-H., Liu C.-Y., Zheng W.
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Stem Cell Res. 37:101427-101427(2019)

PubMed=34411609; DOI=10.1016/j.yexcr.2021.112785; PMCID=PMC8440473
Huang W., Cheng Y.-S., Yang S., Swaroop M., Xu M., Huang W.-W., Zheng W.
Disease modeling for mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
Exp. Cell Res. 407:112785.1-112785.10(2021)