ID   GM27930
AC   CVCL_A9ZH
SY   GM27930*B
DR   Coriell; GM27930
DR   Wikidata; Q102113947
CC   Sequence variation: Mutation; HGNC; HGNC:28912; WDR45; Simple; c.726-1G>A (c.729-1G>A) (IVS9-1G>A); ClinVar=VCV001803675; Zygosity=Heterozygous; Note=De novo mutation. Splice acceptor mutation (Coriell=GM27930).
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)
HI   CVCL_A2SP ! GM27869
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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