ID   GM28219
AC   CVCL_D6X4
DR   Coriell; GM28219
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Ser251del (c.746CCT[1]) (c.752_754delCCT); ClinVar=VCV000418542; Zygosity=Hemizygous (Coriell=GM28219).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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_D6X5 ! GM28231
SX   Male
AG   2Y8M
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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