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Cellosaurus GM04372 (CVCL_2Z50)

[Text version]
Cell line name GM04372
Synonyms GM 4372
Accession CVCL_2Z50
Resource Identification Initiative To cite this cell line use: GM04372 (RRID:CVCL_2Z50)
Comments Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4115; GALC; Unexplicit; Ex11-17del (30-KB DEL,IVS10); ClinVar=VCV000003819; Zygosity=Homozygous (Coriell=GM04372).
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 16FW
Category Finite cell line
Publications

PubMed=3926002; DOI=10.1016/0005-2760(85)90115-8
Kobayashi T., Shinnoh N., Goto I., Kuroiwa Y., Okawauchi M., Sugihara G., Tanaka M.
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
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM04372
Cell line databases/resources CLO; CLO_0019303
Encyclopedic resources Wikidata; Q54838503
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number12