• Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=30497978).
  
• Mutation; HGNC; 4177; GBA1; Simple; p.Ala495Pro (c.1483G>C) (A456P); ClinVar=VCV000093450; Zygosity=Heterozygous (PubMed=30497978).
  
• Mutation; HGNC; 4177; GBA1; Simple; p.Val499Val (c.1497G>C) (V460V); ClinVar=VCV000093451; Zygosity=Heterozygous (PubMed=30497978).
  

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)

PubMed=6593712; DOI=10.1073/pnas.81.20.6506
Beutler E., Kuhl W., Sorge J.
Cross-reacting material in Gaucher disease fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 81:6506-6510(1984)

PubMed=2464926
Wigderson M., Firon N., Horowitz Z., Wilder S., Frishberg Y., Reiner O., Horowitz M.
Characterization of mutations in Gaucher patients by cDNA cloning.
Am. J. Hum. Genet. 44:365-377(1989)

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=30497978; DOI=10.1016/j.ebiom.2018.11.037
Fog C.K., Zago P., Malini E., Solanko L.M., Peruzzo P., Bornaes C., Magnoni R., Mehmedbasic A., Petersen N.H.T., Bembi B., Aerts J.F.M.G., Dardis A., Kirkegaard T.
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
EBioMedicine 38:142-153(2018)