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Cellosaurus GM00006 (CVCL_W146)

[Text version]
Cell line name GM00006
Synonyms GM0006; GM-6
Accession CVCL_W146
Resource Identification Initiative To cite this cell line use: GM00006 (RRID:CVCL_W146)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8582; PAH; Simple; p.Pro281Leu (c.842C>T); ClinVar=VCV000000589; Zygosity=Heterozygous (Coriell=GM00006).
  • Mutation; HGNC; 8582; PAH; Simple; p.Arg408Gln (c.1223G>A); ClinVar=VCV000000612; Zygosity=Heterozygous (Coriell=GM00006).
Disease Phenylketonuria (NCIt: C81315)
Phenylketonuria (ORDO: Orphanet_716)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Finite 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)

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986)

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; GM00006
Cell line databases/resources CLO; CLO_0025202
Encyclopedic resources Wikidata; Q54835965
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number19