• Mutation; HGNC; HGNC:4135; GALT; Simple; p.Ser135Leu (c.404C>T); ClinVar=VCV000003618; Zygosity=Heterozygous (from autologous cell line GM02796).
  
• Mutation; HGNC; HGNC:4135; GALT; Simple; p.Phe171Ser (c.512T>C); ClinVar=VCV000003616; Zygosity=Heterozygous (from autologous cell line GM02796).
  

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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=6988327; DOI=10.1007/BF02831503
Stephen James O'Brien, John E. Shannon, Mitchell H. Gail;
A molecular approach to the identification and individualization of human and animal cells in culture: isozyme and allozyme genetic signatures.
In Vitro 16:119-135(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)

PubMed=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459
John R.W. Masters, Jim A. Thomson, Bernadette Daly-Burns, Yvonne A. Reid, Wilhelm Gerhard Dirks, Phil Packer, Lorraine H. Toji, Tadao Ohno, Hideyuki Tanabe, Colin Francis Arlett, Lloyd R. Kelland ...Show all 16 authors... , Maureen Harrison, Arvind K. Virmani, Timothy H. Ward, Karen L. Ayres, Paul G. Debenham; Show fewer authors
Short tandem repeat profiling provides an international reference standard for human cell lines.
Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001)

PubMed=25877200; DOI=10.1038/nature14397
Ma-Mie Yu, Suresh K. Selvaraj, May M.Y. Liang-Chu, Sahar Aghajani, Matthew Busse, Jean Yuan, Genee Lee, Franklin V. Peale, Christiaan Klijn, Richard Bourgon, Joshua S. Kaminker, Richard M. Neve;
A resource for cell line authentication, annotation and quality control.
Nature 520:307-311(2015)