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Cellosaurus GM01366 (CVCL_D872)

[Text version]
Cell line name GM01366
Synonyms GM-1366; GM 1366
Accession CVCL_D872
Resource Identification Initiative To cite this cell line use: GM01366 (RRID:CVCL_D872)
Comments Population: African American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2698; DBT; Simple; p.Glu224Ter (c.670G>T) (E163X); ClinVar=VCV000094009; Zygosity=Homozygous (Coriell=GM01366).
HLA typing Source: Coriell=GM01366
Class I
HLA-AA*02,09
HLA-BB*08,12
Disease Maple syrup urine disease (NCIt: C34806)
Maple syrup urine disease (ORDO: Orphanet_511)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D871 ! GM01364
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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)

Cross-references
Cell line collections (Providers) Coriell; GM01366
Cell line databases/resources CLO; CLO_0030842
Biological sample resources BioSample; SAMN00803824
Encyclopedic resources Wikidata; Q54836785
Entry history
Entry creation22-Oct-2012
Last entry update30-Jan-2024
Version number19