• Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Ser66Trp (c.197C>G); ClinVar=VCV000005111; Zygosity=Heterozygous (Coriell=GM01881).
  
• Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Val131Met (c.391G>A); ClinVar=VCV001372507; Zygosity=Heterozygous (Coriell=GM01881).
  

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)

PubMed=6777119; DOI=10.1159/000131495
Rodewald A., Cleve H., Stengel-Rutkowski S., Wirtz A., Murken J.-D., DiValerio M., Mulivor R.A., Greene A.E., Coriell L.L.
A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA. Repository identification No. GM1881.
Cytogenet. Cell Genet. 27:267-267(1980)

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)