ID   GM26650
AC   CVCL_VI87
SY   GM26650*B
DR   Coriell; GM26650
DR   Wikidata; Q93932979
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=GM26650).
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)
HI   CVCL_BW56 ! GM25393
SX   Male
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 12
//