ID   GM28304
AC   CVCL_D6XE
DR   Coriell; GM28304
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:5331; NOD2; Simple; p.Glu383Gly (c.1148A>G) (p.Glu356Gly, c.1067A>G); ClinVar=VCV000097822; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28304).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C116794; Blau syndrome
DI   ORDO; Orphanet_90340; Blau syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6XD ! GM28303
SX   Male
AG   9Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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