• Mutation; HGNC; 7632; NAGLU; Simple; p.Arg626Ter (c.1876C>T); ClinVar=VCV000001561; Zygosity=Homozygous (Coriell=GM00156).
  

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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=8650226; DOI=10.1073/pnas.93.12.6101
Zhao H.G., Li H.-H., Bach G., Schmidtchen A., Neufeld E.F.
The molecular basis of Sanfilippo syndrome type B.
Proc. Natl. Acad. Sci. U.S.A. 93:6101-6105(1996)

PubMed=34411609; DOI=10.1016/j.yexcr.2021.112785
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)