ID   GM28994
AC   CVCL_D6ZA
DR   Coriell; GM28994
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:1940; CHM; Simple; p.Ser435Ser (c.1359C>T); ClinVar=VCV001303896; Zygosity=Hemizygous (Coriell=GM28994).
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)
SX   Male
AG   43Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//