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Cellosaurus GM03194 (CVCL_AB30)

[Text version]
Cell line name GM03194
Accession CVCL_AB30
Resource Identification Initiative To cite this cell line use: GM03194 (RRID:CVCL_AB30)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2890; DKC1; Simple; p.Thr66Ala (c.196A>G); ClinVar=VCV000038946; Zygosity=Hemizygous (Coriell=GM03194).
Disease Dyskeratosis congenita (NCIt: C111802)
Dyskeratosis congenita (ORDO: Orphanet_1775)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18Y
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 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; GM03194
Cell line databases/resources CLO; CLO_0013395
Biological sample resources BioSample; SAMN00808287
Encyclopedic resources Wikidata; Q54837929
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number12