ID   GM28332
AC   CVCL_C0LM
DR   Coriell; GM28332
DR   Wikidata; Q112929600
CC   Population: Caucasian; Finnish/German.
CC   Sequence variation: Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Ala79Thr (c.235G>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28332).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
OI   CVCL_C0LN ! GM28333
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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