Cellosaurus cell line GM00639 (CVCL_7299)

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

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=191830; DOI=10.1073/pnas.74.3.1142
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Tumorigenicity of simian virus 40-transformed human cells and mouse-human hybrids in nude mice.
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PubMed=3413074; DOI=10.1073/pnas.85.16.6042
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PubMed=2762303; DOI=10.1073/pnas.86.15.5893
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Mutator phenotype of Werner syndrome is characterized by extensive deletions.
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PubMed=1766867; DOI=10.1093/nar/19.25.7049
Reichardt J.K.V.
Molecular analysis of 11 galactosemia patients.
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PubMed=2011574; DOI=10.1073/pnas.88.7.2633
Reichardt J.K.V., Woo S.L.C.
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
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=9175740; DOI=10.1093/hmg/6.6.921
Bryan T.M., Marusic L., Bacchetti S., Namba M., Reddel R.R.
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
Moser M.J., Kamath-Loeb A.S., Jacob J.E., Bennett S.E., Oshima J., Monnat R.J. Jr.
WRN helicase expression in Werner syndrome cell lines.
Nucleic Acids Res. 28:648-654(2000)

PubMed=11416159; DOI=10.1073/pnas.121616198
Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G., Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R., Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.
Short tandem repeat profiling provides an international reference standard for human cell lines.
Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001)