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Cellosaurus WG0988 (CVCL_UA01)

[Text version]
Cell line name WG0988
Synonyms WG988
Accession CVCL_UA01
Resource Identification Initiative To cite this cell line use: WG0988 (RRID:CVCL_UA01)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
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:13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=11013137).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Adult
Category Finite cell line
Publications

PubMed=11013137; DOI=10.1016/S0002-9297(07)62941-3; PMCID=PMC1288553
Bassi M.T., Manzoni M., Monti E., Pizzo M.T., Ballabio A., Borsani G.
Cloning of the gene encoding a novel integral membrane protein, mucolipidin -- and identification of the two major founder mutations causing mucolipidosis type IV.
Am. J. Hum. Genet. 67:1110-1120(2000)

Cross-references
Encyclopedic resources Wikidata; Q98134877
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number10