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

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Yuan-Tsong Chen, Thomas E. Worthy, Robert Schild Krooth;
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
Rufus S. Day 3rd, Chuck H.J. Ziolkowski, Dominic A. Scudiero, Sharon A. Meyer, Anthony S. Lubiniecki, Anthony Joseph Girardi, Sheila Margaret Galloway, Gaither D. Bynum;
Defective repair of alkylated DNA by human tumour and SV40-transformed human cell strains.
Nature 288:724-727(1980)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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)