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Cellosaurus GM01454 (CVCL_GY16)

[Text version]
Cell line name GM01454
Synonyms GM-1454
Accession CVCL_GY16
Resource Identification Initiative To cite this cell line use: GM01454 (RRID:CVCL_GY16)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2501; CTH; Simple; p.Leu262Thrfs*21 (c.784_785delCT) (940_941delCT); dbSNP=rs748374528; Zygosity=Homozygous (Coriell=GM01454).
Disease Cystathioninuria (NCIt: C129070)
Cystathioninuria (ORDO: Orphanet_212)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 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; GM01454
Cell line databases/resources CLO; CLO_0030871
Biological sample resources BioSample; SAMN00803904
Encyclopedic resources Wikidata; Q54836840
Entry history
Entry creation26-Sep-2016
Last entry update30-Jan-2024
Version number12