ID   GM00441
AC   CVCL_L973
SY   GM-441
DR   CLO; CLO_0026119
DR   Coriell; GM00441
DR   Wikidata; Q54836227
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=181209;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Homozygous (Coriell=GM00441).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L972 ! GM02412
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 30-01-24; Version: 16
//
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=181209; DOI=10.1159/000130689;
RA   Kaffe S., Beratis N.G., Hirschhorn K., Greene A.E., Coriell L.L.;
RT   "Galactosemia. Repository identification Nos. GM-438 to GM-442.";
RL   Cytogenet. Cell Genet. 17:62-64(1976).
//