• Mutation; HGNC; 4122; GALNS; Simple; p.Arg61Trp (c.181C>T); ClinVar=VCV000381663; Zygosity=Heterozygous (PubMed=30797135).
  
• Mutation; HGNC; 4122; GALNS; Simple; p.Trp405_Thr406del (c.1207_1212TGGACC[1]) (c.1213_1218delTGGACC) (p.403_404WT[1]) (WT405del); ClinVar=VCV000566964; Zygosity=Heterozygous (PubMed=30797135).
  

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=30797135; DOI=10.1016/j.scr.2019.101408; PMCID=PMC8045742
Li R., Baskfield A., Beers J.K., Zou J.-H., Liu C.-Y., Almeciga-Diaz C.J., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a mucopolysaccharidosis type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.
Stem Cell Res. 36:101408-101408(2019)