ID   GM27954
AC   CVCL_C7LB
DR   Coriell; GM27954
DR   Wikidata; Q117704354
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Tyr335Cysfs*5 (c.1004_1005delAT (p.Tyr336Cysfs*5, c.1007_1008delAT); ClinVar=VCV000041911; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27954).
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: 21-03-23; Last updated: 19-12-24; Version: 4
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