ID   GM00638
AC   CVCL_7298
SY   GM-638; GM0638; GM 638; GM638; GM00638A; GM54VA
DR   CLO; CLO_0003515
DR   CLO; CLO_0028878
DR   CLDB; cl1482
DR   Coriell; GM00638
DR   Wikidata; Q54836364
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=189310;
RX   PubMed=191830;
RX   PubMed=1766867;
RX   PubMed=2463881;
RX   PubMed=6256643;
RX   PubMed=12361951;
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D342 ! GM00054
SX   Male
AG   3M
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 23
//
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=189310; DOI=10.1073/pnas.74.1.315;
RA   Croce C.M.;
RT   "Assignment of the integration site for simian virus 40 to chromosome
RT   17 in GM54VA, a human cell line transformed by simian virus 40.";
RL   Proc. Natl. Acad. Sci. U.S.A. 74:315-318(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=2463881; DOI=10.1093/carcin/10.2.265;
RA   Babich M.A., Day R.S. III;
RT   "Synergistic killing of virus-transformed human cells with interferon
RT   and N-methyl-N'-nitro-N-nitrosoguanidine.";
RL   Carcinogenesis 10:265-268(1989).
//
RX   PubMed=6256643; DOI=10.1038/288724a0;
RA   Day R.S. III, Ziolkowski C.H.J., Scudiero D.A., Meyer S.A.,
RA   Lubiniecki A.S., Girardi A.J., Galloway S.M., Bynum G.D.;
RT   "Defective repair of alkylated DNA by human tumour and
RT   SV40-transformed human cell strains.";
RL   Nature 288:724-727(1980).
//
RX   PubMed=12361951; DOI=10.1074/jbc.M207937200;
RA   Donahue S.L., Campbell C.;
RT   "A DNA double strand break repair defect in Fanconi anemia
RT   fibroblasts.";
RL   J. Biol. Chem. 277:46243-46247(2002).
//