ID   GM25383
AC   CVCL_BW52
DR   Coriell; GM25383
DR   Wikidata; Q54853914
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1940; CHM; Simple; p.Arg270Ter (c.808C>T); ClinVar=VCV000143078; Zygosity=Hemizygous (Coriell=GM25383).
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_BW51 ! GM25382
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 30-01-24; Version: 12
//