ID   GM25421
AC   CVCL_EH27
DR   Coriell; GM25421
DR   Wikidata; Q54853951
CC   Sequence variation: Mutation; HGNC; HGNC:1940; CHM; Simple; p.Ser190Ter (c.569C>T); Zygosity=Hemizygous (Coriell=GM25421).
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_EH26 ! GM25420
SX   Male
AG   48Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
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