ID   GM08979
DR   CLO; CLO_0011091
DR   BioSample; SAMN00798361
DR   Coriell; GM08979
DR   Wikidata; Q54843460
RX   CelloPub=CLPUB00447;
RX   PubMed=10391211;
CC   Part of: Retinitis Pigmentosa Foundation Collection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10263; RP1; Simple; p.Arg677Ter (c.2029C>T); ClinVar=VCV000005965; Zygosity=Homozygous (PubMed=10391211; Coriell).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 29-06-23; Version: 12
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=10391211; DOI=10.1038/10305;
RA   Pierce E.A., Quinn T., Meehan T., McGee T.L., Berson E.L., Dryja T.P.;
RT   "Mutations in a gene encoding a new oxygen-regulated photoreceptor
RT   protein cause dominant retinitis pigmentosa.";
RL   Nat. Genet. 22:248-254(1999).