Cellosaurus cell line GM06330 (CVCL

Cross-references
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; 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 Arthur E. Greene, Richard A. Mulivor; 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 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)
Cell line collections (Providers)	Coriell; GM06330
Cell line databases/resources	CLO; CLO_0023078
Encyclopedic resources	Wikidata; Q54842258
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	14