ID   WG0988
AC   CVCL_UA01
SY   WG988
DR   Wikidata; Q98134877
RX   PubMed=11013137;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=11013137).
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.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=11013137; DOI=10.1016/S0002-9297(07)62941-3; PMCID=PMC1288553;
RA   Bassi M.T., Manzoni M., Monti E., Pizzo M.T., Ballabio A., Borsani G.;
RT   "Cloning of the gene encoding a novel integral membrane protein,
RT   mucolipidin -- and identification of the two major founder mutations
RT   causing mucolipidosis type IV.";
RL   Am. J. Hum. Genet. 67:1110-1120(2000).
//