ID   GM25386
AC   CVCL_BW54
DR   Coriell; GM25386
DR   Wikidata; Q54853917
CC   Sequence variation: Mutation; HGNC; HGNC:1940; CHM; Simple; p.Arg270Ter (c.808C>T); ClinVar=VCV000143078; Zygosity=Hemizygous (Coriell=GM25386).
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_BW53 ! GM25385
SX   Male
AG   61Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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