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Cellosaurus GM02533 (CVCL_M926)

[Text version]
Cell line name GM02533
Synonyms GM02533A; GM17360
Accession CVCL_M926
Resource Identification Initiative To cite this cell line use: GM02533 (RRID:CVCL_M926)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Human variation panel.
Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=11013137).
  • Mutation; 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)
Originate from same individual CVCL_M927 ! GM02048
Sex of cell Female
Age at sampling 2Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=11013137; DOI=10.1016/S0002-9297(07)62941-3
Bassi M.T., Manzoni M., Monti E., Pizzo M.T., Ballabio A., Borsani G.
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=19815695; DOI=10.2353/jmoldx.2009.090050
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

Cross-references
Cell line collections (Providers) Coriell; GM02533
Coriell; GM17360
Cell line databases/resources CLO; CLO_0013703
CLO; CLO_0033409
Encyclopedic resources Wikidata; Q54837537
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number19