ID   GM27914
AC   CVCL_C7L5
DR   Coriell; GM27914
DR   Wikidata; Q117704349
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Phe221Leufs*67 (c.660delC); Zygosity=Heterozygous (Coriell=GM27914).
CC   Cell type: Fibroblast; CL=CL_0000057.
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   5Y
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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