ID   GM00334
AC   CVCL_W232
SY   GM-334; GM00334A
DR   CLO; CLO_0025532
DR   Coriell; GM00334
DR   Wikidata; Q54836168
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7670469;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4118; GALK1; Simple; p.Val32Met (c.94G>A); ClinVar=VCV000005628; Zygosity=Homozygous (PubMed=7670469).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C114767; Galactokinase deficiency
DI   ORDO; Orphanet_79237; Galactokinase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   22Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 13
//
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=7670469; DOI=10.1038/ng0795-307;
RA   Stambolian D.E., Ai Y.-J., Sidjanin D., Nesburn K., Sathe G.,
RA   Rosenberg M., Bergsma D.J.;
RT   "Cloning of the galactokinase cDNA and identification of mutations in
RT   two families with cataracts.";
RL   Nat. Genet. 10:307-312(1995).
//