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Cellosaurus GM00639 (CVCL_7299)

[Text version]

Cell line name GM00639
Synonyms GM-639; GM0639; GM 639; GM639; GM52VA
Accession CVCL_7299
Resource Identification Initiative To cite this cell line use: GM00639 (RRID:CVCL_7299)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from sampling site: Skin.
Sequence variations Heterozygous for GALT p.Ser135Leu (c.404C>T) (ClinVar=VCV000003618) (from parent cell line).
Heterozygous for GALT p.Phe171Ser (c.512T>C) (ClinVar=VCV000003616) (from parent cell line).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_2779 (CHP 4 (W.W.))
CVCL_RW59 (RG37)
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
STR profile Source(s): PubMed=11416159


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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
Koprowski H., Croce C.M.
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)

PubMed=3413074; DOI=10.1073/pnas.85.16.6042
Pereira-Smith O.M., Smith J.R.
Genetic analysis of indefinite division in human cells: identification of four complementation groups.
Proc. Natl. Acad. Sci. U.S.A. 85:6042-6046(1988)

PubMed=2762303; DOI=10.1073/pnas.86.15.5893
Fukuchi K.-I., Martin G.M., Monnat R.J. 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
Reichardt J.K.V.
Molecular analysis of 11 galactosemia patients.
Nucleic Acids Res. 19:7049-7052(1991)

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)

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)

Cell line collections Coriell; GM00639 - Discontinued
Cell line databases/resources CLDB; cl1483
Ontologies CLO; CLO_0003516
Other Wikidata; Q54836366
Entry history
Entry creation04-Apr-2012
Last entry update12-Jan-2021
Version number20