ID   GM00639
AC   CVCL_7299
SY   GM-639; GM0639; GM 639; GM639; GM52VA
DR   CLO; CLO_0003516
DR   CLDB; cl1483
DR   Coriell; GM00639
DR   Wikidata; Q54836366
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=191830;
RX   PubMed=1766867;
RX   PubMed=2011574;
RX   PubMed=2762303;
RX   PubMed=3413074;
RX   PubMed=9175740;
RX   PubMed=10606667;
RX   PubMed=11416159;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Ser135Leu (c.404C>T); ClinVar=VCV000003618; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Phe171Ser (c.512T>C); ClinVar=VCV000003616; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Discontinued: Coriell; GM00639; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=11416159
ST   Amelogenin: X,Y
ST   D18S51: 14,16
ST   D21S11: 30,31
ST   D8S1179: 13
ST   FGA: 23,24
ST   TH01: 9.3
ST   vWA: 15,17
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2779 ! CHP 4 (W.W.)
SX   Male
AG   15Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 05-10-23; Version: 25
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=191830; DOI=10.1073/pnas.74.3.1142;
RA   Koprowski H., Croce C.M.;
RT   "Tumorigenicity of simian virus 40-transformed human cells and
RT   mouse-human hybrids in nude mice.";
RL   Proc. Natl. Acad. Sci. U.S.A. 74:1142-1146(1977).
//
RX   PubMed=1766867; DOI=10.1093/nar/19.25.7049;
RA   Reichardt J.K.V.;
RT   "Molecular analysis of 11 galactosemia patients.";
RL   Nucleic Acids Res. 19:7049-7052(1991).
//
RX   PubMed=2011574; DOI=10.1073/pnas.88.7.2633;
RA   Reichardt J.K.V., Woo S.L.C.;
RT   "Molecular basis of galactosemia: mutations and polymorphisms in the
RT   gene encoding human galactose-1-phosphate uridylyltransferase.";
RL   Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991).
//
RX   PubMed=2762303; DOI=10.1073/pnas.86.15.5893;
RA   Fukuchi K.-i., Martin G.M., Monnat R.J. Jr.;
RT   "Mutator phenotype of Werner syndrome is characterized by extensive
RT   deletions.";
RL   Proc. Natl. Acad. Sci. U.S.A. 86:5893-5897(1989).
//
RX   PubMed=3413074; DOI=10.1073/pnas.85.16.6042;
RA   Pereira-Smith O.M., Smith J.R.;
RT   "Genetic analysis of indefinite division in human cells:
RT   identification of four complementation groups.";
RL   Proc. Natl. Acad. Sci. U.S.A. 85:6042-6046(1988).
//
RX   PubMed=9175740; DOI=10.1093/hmg/6.6.921;
RA   Bryan T.M., Marusic L., Bacchetti S., Namba M., Reddel R.R.;
RT   "The telomere lengthening mechanism in telomerase-negative immortal
RT   human cells does not involve the telomerase RNA subunit.";
RL   Hum. Mol. Genet. 6:921-926(1997).
//
RX   PubMed=10606667; DOI=10.1093/nar/28.2.648;
RA   Moser M.J., Kamath-Loeb A.S., Jacob J.E., Bennett S.E., Oshima J.,
RA   Monnat R.J. Jr.;
RT   "WRN helicase expression in Werner syndrome cell lines.";
RL   Nucleic Acids Res. 28:648-654(2000).
//
RX   PubMed=11416159; DOI=10.1073/pnas.121616198;
RA   Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G.,
RA   Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R.,
RA   Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.;
RT   "Short tandem repeat profiling provides an international reference
RT   standard for human cell lines.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001).
//