ID   GM04372
AC   CVCL_2Z50
SY   GM 4372
DR   CLO; CLO_0019303
DR   Coriell; GM04372
DR   Wikidata; Q54838503
RX   CelloPub=CLPUB00447;
RX   PubMed=3926002;
CC   Sequence variation: Mutation; HGNC; 4115; GALC; Unexplicit; Ex11-17del (30-KB DEL,IVS10); ClinVar=VCV000003819; Zygosity=Homozygous (Coriell=GM04372).
CC   Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61254; Krabbe disease
DI   ORDO; Orphanet_487; Krabbe disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   16FW
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 12
//
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   PubMed=3926002; DOI=10.1016/0005-2760(85)90115-8;
RA   Kobayashi T., Shinnoh N., Goto I., Kuroiwa Y., Okawauchi M.,
RA   Sugihara G., Tanaka M.;
RT   "Galactosylceramide- and lactosylceramide-loading studies in cultured
RT   fibroblasts from normal individuals and patients with globoid cell
RT   leukodystrophy (Krabbe's disease) and GM1-gangliosidosis.";
RL   Biochim. Biophys. Acta 835:456-464(1985).
//