ID   GM25571
AC   CVCL_EH28
DR   Coriell; GM25571
DR   Wikidata; Q54854006
CC   Sequence variation: Mutation; HGNC; HGNC:1940; CHM; Simple; p.Arg253Ter (c.757C>T); ClinVar=VCV000279774; Zygosity=Hemizygous (Coriell=GM25571).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C34469; Choroideremia
DI   ORDO; Orphanet_180; Choroideremia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
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