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Cellosaurus GM01565 (CVCL_9R62)

[Text version]
Cell line name GM01565
Synonyms GM-1565
Accession CVCL_9R62
Resource Identification Initiative To cite this cell line use: GM01565 (RRID:CVCL_9R62)
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.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Homozygous (Coriell=GM01565).
  • Mutation; HGNC; 8582; PAH; Simple; p.Arg252Gln (c.755G>A); ClinVar=VCV000102824; Zygosity=Heterozygous (Coriell=GM01565).
  • Mutation; HGNC; 8582; PAH; Simple; c.1315+1G>A (IVS12+1G>A); ClinVar=VCV000000576; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM01565).
Disease Cystathioninuria (NCIt: C129070)
Phenylketonuria (NCIt: C81315)
Cystathioninuria (ORDO: Orphanet_212)
Phenylketonuria (ORDO: Orphanet_716)
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
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; GM01565
Cell line databases/resources CLO; CLO_0031449
Biological sample resources BioSample; SAMN00806918
Encyclopedic resources Wikidata; Q54836913
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number15