ID   GM25392
AC   CVCL_BW55
DR   Coriell; GM25392
DR   Wikidata; Q54853921
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1940; CHM; Simple; c.189+1G>T (IVS3+1G>T); Zygosity=Hemizygous; Note=Splice donor mutation (Coriell=GM25392).
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_BW56 ! GM25393
SX   Male
AG   57Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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