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Cellosaurus GM02412 (CVCL_L972)

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Cell line name GM02412
Synonyms GM-2412; GM 2412; GM02412B; GM01027; GM-1027
Accession CVCL_L972
Resource Identification Initiative To cite this cell line use: GM02412 (RRID:CVCL_L972)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Homozygous (Coriell=GM02412).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_L973 ! GM00441
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=1766867; DOI=10.1093/nar/19.25.7049; PMCID=PMC332510
Juergen K.V. Reichardt;
Molecular analysis of 11 galactosemia patients.
Nucleic Acids Res. 19:7049-7052(1991)

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

Cross-references
Cell line collections (Providers) Coriell; GM01027 - Discontinued
Coriell; GM02412
Cell line databases/resources CLO; CLO_0033097
Biological sample resources BioSample; SAMN00807745
Encyclopedic resources Wikidata; Q54837470
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number19