• Mutation; HGNC; 4135; GALT; Simple; p.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (from autologous cell line GM02795).
  
• Mutation; HGNC; 4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (from autologous cell line GM02795).
  

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=694721; DOI=10.1007/BF01542843
Chen Y.-T., Worthy T.E., Krooth R.S.
Evidence for a striking increase in acetylcholinesterase activity in cultured human fibroblasts which are trisomic for chromosome two.
Somatic Cell Genet. 4:265-298(1978)

PubMed=6256643; DOI=10.1038/288724a0
Day R.S. 3rd, Ziolkowski C.H.J., Scudiero D.A., Meyer S.A., Lubiniecki A.S., Girardi A.J., Galloway S.M., Bynum G.D.
Defective repair of alkylated DNA by human tumour and SV40-transformed human cell strains.
Nature 288:724-727(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)