ID   GM00054
AC   CVCL_D342
SY   GM-54; GM54; GM0054
DR   CLO; CLO_0025177
DR   BioSample; SAMN00794772
DR   Coriell; GM00054
DR   Wikidata; Q54836006
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=694721;
RX   PubMed=6256643;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (from autologous cell line GM02795).
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (from autologous cell line GM02795).
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)
OI   CVCL_F026 ! GM01907
OI   CVCL_F027 ! GM02795
SX   Male
AG   3M
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 02-05-24; Version: 21
//
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=694721; DOI=10.1007/BF01542843;
RA   Chen Y.-T., Worthy T.E., Krooth R.S.;
RT   "Evidence for a striking increase in acetylcholinesterase activity in
RT   cultured human fibroblasts which are trisomic for chromosome two.";
RL   Somatic Cell Genet. 4:265-298(1978).
//
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).
//