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Cellosaurus WG0909 (CVCL_UB69)

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Cell line name WG0909
Synonyms WG 0909; WG909
Accession CVCL_UB69
Resource Identification Initiative To cite this cell line use: WG0909 (RRID:CVCL_UB69)
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).
  • Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.511del6434 (Ex1-7del) (delta6432); Zygosity=Heterozygous (PubMed=11013137).
Disease Mucolipidosis type IV (NCIt: C84896)
Mucolipidosis type IV (ORDO: Orphanet_578)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Finite cell line
Publications

PubMed=11013137; DOI=10.1016/S0002-9297(07)62941-3; PMCID=PMC1288553
Maria T. Bassi, Marta Manzoni, Eugenio Monti, Maria T. Pizzo, Andrea Ballabio, Giuseppe Borsani;
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)

PubMed=17056595; DOI=10.1074/jbc.M607982200
John J. Jennings Jr., Jian-Hui Zhu, Youssef Rbaibi, Xiang Luo, Charleen T. Chu, Kirill Kiselyov;
Mitochondrial aberrations in mucolipidosis type IV.
J. Biol. Chem. 281:39041-39050(2006)

Cross-references
Encyclopedic resources Wikidata; Q98134870
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number11