ID   GM25382
AC   CVCL_BW51
DR   Coriell; GM25382
DR   Wikidata; Q54853913
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1940; CHM; Simple; p.Arg270Ter (c.808C>T); ClinVar=VCV000143078; Zygosity=Hemizygous (Coriell=GM25382).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34469; Choroideremia
DI   ORDO; Orphanet_180; Choroideremia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_BW52 ! GM25383
SX   Male
AG   20Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
//