ID   GM08978
AC   CVCL_AL48
DR   CLO; CLO_0011089
DR   BioSample; SAMN00798359
DR   Coriell; GM08978
DR   Wikidata; Q54843459
RX   CelloPub=CLPUB00447;
CC   Part of: Retinitis Pigmentosa Foundation Collection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10263; RP1; Simple; p.Arg677Ter (c.2029C>T); ClinVar=VCV000005965; Zygosity=Heterozygous (Coriell=GM08978).
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   50Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 15
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//