ID   GM25394
AC   CVCL_HK68
DR   Coriell; GM25394
DR   Wikidata; Q54853923
CC   Sequence variation: Mutation; HGNC; HGNC:1940; CHM; Simple; p.Arg293Ter (c.877C>T); ClinVar=VCV000011154; Zygosity=Hemizygous (Coriell=GM25394).
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   26Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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