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Cellosaurus GM03589 (CVCL_W024)

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Cell line name GM03589
Synonyms GM 3589
Accession CVCL_W024
Resource Identification Initiative To cite this cell line use: GM03589 (RRID:CVCL_W024)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Cys127Tyr (c.380G>A); ClinVar=VCV000918041; Zygosity=Heterozygous (from child cell line CHOCi005-A).
  • Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Trp161Gly (c.481T>G); ClinVar=VCV000092910; Zygosity=Heterozygous (from child cell line CHOCi005-A).
Disease GM1 gangliosidosis (NCIt: C84739)
GM1 gangliosidosis (ORDO: Orphanet_354)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C9ZB (CHOCi005-A)
Sex of cell Female
Age at sampling 7M
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; GM03589
Cell line databases/resources CLO; CLO_0017211
Biological sample resources BioSample; SAMN00808463
Encyclopedic resources Wikidata; Q54838146
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number14