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Cellosaurus WG0321 (CVCL_UD63)

[Text version]
Cell line name WG0321
Synonyms WG 321; WG321
Accession CVCL_UD63
Resource Identification Initiative To cite this cell line use: WG0321 (RRID:CVCL_UD63)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; French Canadian.
Omics: Transcriptome analysis by microarray.
Miscellaneous: Cell line no longer available.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4137; GAN; Unexplicit; Ex10-11del; Zygosity=Unspecified (PubMed=17331252).
Disease Giant axonal neuropathy (NCIt: C84728)
Giant axonal neuropathy (ORDO: Orphanet_643)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5-6Y
Category Finite cell line
Publications

PubMed=6273766; DOI=10.1212/WNL.31.11.1470
Pena S.D.J.
Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts.
Neurology 31:1470-1473(1981)

PubMed=6280044; DOI=10.1002/mus.880050215
Pena S.D.J.
Giant axonal neuropathy: an inborn error of organization of intermediate filaments.
Muscle Nerve 5:166-172(1982)

PubMed=6315439
Pena S.D.J., Opas M., Turksen K., Kalnins V.I., Carpenter S.H.
Immunocytochemical studies of intermediate filament aggregates and their relationship to microtubules in cultured skin fibroblasts from patients with giant axonal neuropathy.
Eur. J. Cell Biol. 31:227-234(1983)

PubMed=3880753; DOI=10.1083/jcb.100.1.245; PMCID=PMC2113460
Klymkowsky M.W., Plummer D.J.
Giant axonal neuropathy: a conditional mutation affecting cytoskeletal organization.
J. Cell Biol. 100:245-250(1985)

PubMed=17331252; DOI=10.1186/1471-2156-8-6; PMCID=PMC1810559
Leung C.L., Pang Y.-H., Shu C., Goryunov D., Liem R.K.H.
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.
BMC Genet. 8:6.1-6.12(2007)

Cross-references
Encyclopedic resources Wikidata; Q98134835
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9