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Cellosaurus GM06330 (CVCL_CY54)

[Text version]
Cell line name GM06330
Synonyms GM6330
Accession CVCL_CY54
Resource Identification Initiative To cite this cell line use: GM06330 (RRID:CVCL_CY54)
Comments Population: Caucasian; Italian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 8091; OAT; Simple; p.Ala226Val (c.677C>T); ClinVar=VCV000000181; Zygosity=Homozygous (Coriell=GM06330).
Disease Gyrate atrophy (NCIt: C84744)
Gyrate atrophy of choroid and retina (ORDO: Orphanet_414)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
Category Finite cell line
Publications

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; GM06330
Cell line databases/resources CLO; CLO_0023078
Encyclopedic resources Wikidata; Q54842258
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number13