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

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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)

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Hilary Koprowski, Carlo Maria Croce;
Tumorigenicity of simian virus 40-transformed human cells and mouse-human hybrids in nude mice.
Proc. Natl. Acad. Sci. U.S.A. 74:1142-1146(1977)

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Olivia M. Pereira-Smith, James R. Smith;
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Proc. Natl. Acad. Sci. U.S.A. 85:6042-6046(1988)

PubMed=2762303; DOI=10.1073/pnas.86.15.5893; PMCID=PMC297737
Ken-ichiro Fukuchi, George M. Martin, Raymond J. Monnat Jr.;
Mutator phenotype of Werner syndrome is characterized by extensive deletions.
Proc. Natl. Acad. Sci. U.S.A. 86:5893-5897(1989)

PubMed=1766867; DOI=10.1093/nar/19.25.7049; PMCID=PMC332510
Juergen K.V. Reichardt;
Molecular analysis of 11 galactosemia patients.
Nucleic Acids Res. 19:7049-7052(1991)

PubMed=2011574; DOI=10.1073/pnas.88.7.2633; PMCID=PMC51292
Juergen K.V. Reichardt, Savio L.C. Woo;
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991)

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=9175740; DOI=10.1093/hmg/6.6.921
Tracy M. Bryan, Lidija Marusic, Silvia Bacchetti, Masayoshi Namba, Roger Robert Reddel;
The telomere lengthening mechanism in telomerase-negative immortal human cells does not involve the telomerase RNA subunit.
Hum. Mol. Genet. 6:921-926(1997)

PubMed=10606667; DOI=10.1093/nar/28.2.648; PMCID=PMC102521
Michael J. Moser, Ashwini S. Kamath-Loeb, Jessica E. Jacob, Samuel E. Bennett, Junko Oshima, Raymond J. Monnat Jr.;
WRN helicase expression in Werner syndrome cell lines.
Nucleic Acids Res. 28:648-654(2000)

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)