ID   GM25422
AC   CVCL_HK69
DR   Coriell; GM25422
DR   Wikidata; Q54853952
CC   Sequence variation: Mutation; HGNC; HGNC:1940; CHM; Simple; p.Glu177Lysfs*6 (c.525_526delAG); ClinVar=VCV000279773; Zygosity=Hemizygous (Coriell=GM25422).
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)
SX   Male
AG   48Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
//