Cellosaurus cell line WG0987 (CVCL

Cross-references
Cell line name	WG0987
Synonyms	WG 0987; WG987
Accession	CVCL_UA00
Resource Identification Initiative	To cite this cell line use: WG0987 (RRID:CVCL_UA00)
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.511del6434 (Ex1-7del) (delta6432); Zygosity=Heterozygous (PubMed=11013137).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Adult
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)
Encyclopedic resources	Wikidata; Q98134874
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	8