ID   GM04517
AC   CVCL_2Z51
SY   GM 4517
DR   CLO; CLO_0018849
DR   Coriell; GM04517
DR   Wikidata; Q54838555
RX   CelloPub=CLPUB00447;
RX   PubMed=3926002;
CC   Sequence variation: Mutation; HGNC; HGNC:4115; GALC; Unexplicit; Ex11-17del (30-KB DEL,IVS10); ClinVar=VCV000003819; Zygosity=Homozygous (Coriell=GM04517).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61254; Krabbe disease
DI   ORDO; Orphanet_487; Krabbe disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//
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   PubMed=3926002; DOI=10.1016/0005-2760(85)90115-8;
RA   Kobayashi, Takuro
RA   Shinnoh, Nobue
RA   Goto, Ikuo
RA   Kuroiwa, Yoshigoro
RA   Okawauchi, Makoto
RA   Sugihara, Gosuke
RA   Tanaka, Mitsuru
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).
//