ID   GM28267
AC   CVCL_D3A9
DR   Coriell; GM28267
DR   Wikidata; Q127380914
CC   Population: Caucasian; Danish/German.
CC   Sequence variation: Mutation; HGNC; HGNC:5331; NOD2; Simple; p.Arg334Trp (c.1000C>T) (p.Arg307Trp, c.919C>T); ClinVar=VCV000004696; Zygosity=Heterozygous (Coriell=GM28267).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C116794; Blau syndrome
DI   ORDO; Orphanet_90340; Blau syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   8Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//