ID   GM02533
AC   CVCL_M926
SY   GM02533A; GM17360
DR   CLO; CLO_0013703
DR   CLO; CLO_0033409
DR   Coriell; GM02533
DR   Coriell; GM17360
DR   Wikidata; Q54837537
RX   CelloPub=CLPUB00447;
RX   PubMed=11013137;
RX   PubMed=19815695;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Jewish; Ashkenazi.
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   Sequence variation: Mutation; HGNC; HGNC:13356; MCOLN1; Simple; c.511del6434 (Ex1-7del) (delta6432); Zygosity=Heterozygous (PubMed=11013137).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84896; Mucolipidosis type IV
DI   ORDO; Orphanet_578; Mucolipidosis type IV
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M927 ! GM02048
SX   Female
AG   2Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 20
//
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).
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751;
RA   Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J.,
RA   Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M.,
RA   Payeur T.L., Sellers T., Toji L.H., Muralidharan K.;
RT   "Development of genomic DNA reference materials for genetic testing of
RT   disorders common in people of Ashkenazi Jewish descent.";
RL   J. Mol. Diagn. 11:530-536(2009).
//