ID   GM09113
AC   CVCL_CY59
DR   CLO; CLO_0010659
DR   BioSample; SAMN00798553
DR   Coriell; GM09113
DR   Wikidata; Q54843590
RX   CelloPub=CLPUB00447;
RX   PubMed=10617919;
CC   Population: Caucasian; Irish.
CC   Sequence variation: Mutation; HGNC; 8091; OAT; Simple; p.Glu318Lys (c.952G>A); ClinVar=VCV000207045; Zygosity=Homozygous (PubMed=10617919).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84744; Gyrate atrophy
DI   ORDO; Orphanet_414; Gyrate atrophy of choroid and retina
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   90Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 9
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=10617919; DOI=10.1076/opge.20.4.219.2271;
RA   Mashima Y., Weleber R.G., Kennaway N.G., Inana G.;
RT   "Genotype-phenotype correlation of a pyridoxine-responsive form of
RT   gyrate atrophy.";
RL   Ophthalmic Genet. 20:219-224(1999).
//