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Cellosaurus GM01566 (CVCL_GY17)

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Cell line name GM01566
Synonyms GM-1566
Accession CVCL_GY17
Resource Identification Initiative To cite this cell line use: GM01566 (RRID:CVCL_GY17)
Comments Population: Caucasian.
Karyotypic information: 47,XX,+12 [66%]; 46,XX,-10,+12 [30%]; 45,XX,-10 [4%] (Coriell=GM01566).
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2501; CTH; Simple; p.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Heterozygous (Coriell=GM01566).
  • Mutation; HGNC; HGNC:2501; CTH; Simple; p.Thr355Ilefs*19 (c.1064delC); ClinVar=VCV001033458; Zygosity=Heterozygous (Coriell=GM01566).
HLA typing Source: Coriell=GM01566
Class I
HLA-AA*01,28
HLA-BB*13,w35
Disease Cystathioninuria (NCIt: C129070)
Cystathioninuria (ORDO: Orphanet_212)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 16Y
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)

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; GM01566
Cell line databases/resources CLO; CLO_0031450
Biological sample resources BioSample; SAMN00806919
Encyclopedic resources Wikidata; Q54836914
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number15