Cellosaurus logo
expasy logo

Cellosaurus GM04517 (CVCL_2Z51)

[Text][XML][JSON]
Cell line name GM04517
Synonyms GM 4517
Accession CVCL_2Z51
Resource Identification Initiative To cite this cell line use: GM04517 (RRID:CVCL_2Z51)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4115; GALC; Unexplicit; Ex11-17del (30-KB DEL,IVS10); ClinVar=VCV000003819; Zygosity=Homozygous (Coriell=GM04517).
Disease Krabbe disease (NCIt: C61254)
Krabbe disease (ORDO: Orphanet_487)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8M
Category Finite cell line
Publications

PubMed=3926002; DOI=10.1016/0005-2760(85)90115-8
Takuro Kobayashi, Nobue Shinnoh, Ikuo Goto, Yoshigoro Kuroiwa, Makoto Okawauchi, Gosuke Sugihara, Mitsuru Tanaka;
Galactosylceramide- and lactosylceramide-loading studies in cultured fibroblasts from normal individuals and patients with globoid cell leukodystrophy (Krabbe's disease) and GM1-gangliosidosis.
Biochim. Biophys. Acta 835:456-464(1985)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM04517
Cell line databases/resources CLO; CLO_0018849
Encyclopedic resources Wikidata; Q54838555
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13