ID   GM25393
AC   CVCL_BW56
DR   Coriell; GM25393
DR   Wikidata; Q54853922
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=GM25393).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34469; Choroideremia
DI   ORDO; Orphanet_180; Choroideremia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_BW55 ! GM25392
SX   Male
AG   57Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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