ID   GM28284
AC   CVCL_C0LH
DR   Coriell; GM28284
DR   Wikidata; Q112929596
CC   Population: Caucasian; German/Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Gly163Ter (c.487G>T); ClinVar=VCV000504345; Zygosity=Heterozygous (Coriell=GM28284).
CC   Derived from site: In situ; Back, skin; UBERON=UBERON_0001068.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C175210; Neurodegeneration with brain iron accumulation 5
DI   ORDO; Orphanet_329284; Beta-propeller protein-associated neurodegeneration
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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