ID   GM02526
AC   CVCL_9Q79
DR   CLO; CLO_0033421
DR   Coriell; GM02526
DR   Wikidata; Q54837531
RX   CelloPub=CLPUB00447;
RX   PubMed=11013137;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=11013137).
CC   Sequence variation: Mutation; HGNC; 13356; MCOLN1; Simple; c.511del6434 (Ex1-7del) (delta6432); Zygosity=Heterozygous (PubMed=11013137).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84896; Mucolipidosis type IV
DI   ORDO; Orphanet_578; Mucolipidosis type IV
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
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).
//