ID   GM06330
AC   CVCL_CY54
SY   GM6330
DR   CLO; CLO_0023078
DR   Coriell; GM06330
DR   Wikidata; Q54842258
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 8091; OAT; Simple; p.Ala226Val (c.677C>T); ClinVar=VCV000000181; Zygosity=Homozygous (Coriell=GM06330).
CC   Cell type: Fibroblast; CL=CL_0000057.
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   27Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 13
//
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   CelloPub=CLPUB00720;
RA   Greene A.E., Mulivor R.A.;
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda (1986).
//