ID   WG0791
AC   CVCL_UD64
SY   WG 791; WG791
DR   Wikidata; Q98134863
RX   PubMed=3880753;
RX   PubMed=6280044;
RX   PubMed=6315439;
RX   PubMed=17331252;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:4137; GAN; Simple; c.282+3A>C (Ex2del); ClinVar=VCV000637094; Zygosity=Heterozygous (PubMed=17331252).
CC   Sequence variation: Mutation; HGNC; HGNC:4137; GAN; Simple; p.Ile182Asn (c.545T>A); ClinVar=VCV000637093; Zygosity=Heterozygous (PubMed=17331252).
CC   Omics: Transcriptome analysis by microarray.
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84728; Giant axonal neuropathy
DI   ORDO; Orphanet_643; Giant axonal neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
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RX   PubMed=3880753; DOI=10.1083/jcb.100.1.245; PMCID=PMC2113460;
RA   Klymkowsky M.W., Plummer D.J.;
RT   "Giant axonal neuropathy: a conditional mutation affecting
RT   cytoskeletal organization.";
RL   J. Cell Biol. 100:245-250(1985).
//
RX   PubMed=6280044; DOI=10.1002/mus.880050215;
RA   Pena S.D.J.;
RT   "Giant axonal neuropathy: an inborn error of organization of
RT   intermediate filaments.";
RL   Muscle Nerve 5:166-172(1982).
//
RX   PubMed=6315439;
RA   Pena S.D.J., Opas M., Turksen K., Kalnins V.I., Carpenter S.H.;
RT   "Immunocytochemical studies of intermediate filament aggregates and
RT   their relationship to microtubules in cultured skin fibroblasts from
RT   patients with giant axonal neuropathy.";
RL   Eur. J. Cell Biol. 31:227-234(1983).
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RX   PubMed=17331252; DOI=10.1186/1471-2156-8-6; PMCID=PMC1810559;
RA   Leung C.L., Pang Y.-H., Shu C., Goryunov D., Liem R.K.H.;
RT   "Alterations in lipid metabolism gene expression and abnormal lipid
RT   accumulation in fibroblast explants from giant axonal neuropathy
RT   patients.";
RL   BMC Genet. 8:6.1-6.12(2007).
//