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; 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: 19-12-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=7670469; DOI=10.1038/ng0795-307;
RA   Stambolian, Dwight Edward
RA   Ai, Yun-Jun
RA   Sidjanin, Duska
RA   Nesburn, Kristin
RA   Sathe, Ganesh M.
RA   Rosenberg, Martin
RA   Bergsma, Derk J.
RT   "Cloning of the galactokinase cDNA and identification of mutations in
RT   two families with cataracts.";
RL   Nat. Genet. 10:307-312(1995).
//