Cellosaurus cell line GM09113 (CVCL

Cross-references
Cell line name	GM09113
Accession	CVCL_CY59
Resource Identification Initiative	To cite this cell line use: GM09113 (RRID:CVCL_CY59)
Comments	Population: Caucasian; Irish. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:8091; OAT; Simple; p.Glu318Lys (c.952G>A); ClinVar=VCV000207045; Zygosity=Homozygous (PubMed=10617919).
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	90Y
Category	Finite cell line
Publications	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) PubMed=10617919; DOI=10.1076/opge.20.4.219.2271 Mashima Y., Weleber R.G., Kennaway N.G., Inana G. Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. Ophthalmic Genet. 20:219-224(1999)
Cell line collections (Providers)	Coriell; GM09113
Cell line databases/resources	CLO; CLO_0010659
Biological sample resources	BioSample; SAMN00798553
Encyclopedic resources	Wikidata; Q54843590
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	10