ID   GM01996
AC   CVCL_V813
SY   GM-1996; GM 1996; BH-76-506
DR   CLO; CLO_0032286
DR   BioSample; SAMN00807362
DR   Coriell; GM01996
DR   Wikidata; Q54837221
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=891264;
RX   PubMed=1766867;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Asn314Asp (c.940A>G); ClinVar=VCV000003613; Zygosity=Heterozygous (Coriell=GM01996).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 17
//
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=891264; DOI=10.1159/000130797;
RA   Donnell G.N., Ng W.G., Alfi O.S., Greene A.E., Coriell L.L.;
RT   "Duarte variant-galactosemia heterozygote. Repository identification
RT   No. GM-1996.";
RL   Cytogenet. Cell Genet. 19:53-54(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).
//