ID   GM28231
AC   CVCL_D6X5
DR   Coriell; GM28231
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=GM28231).
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_D6X4 ! GM28219
SX   Male
AG   2Y9M
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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