ID   GM18308
AC   CVCL_5Q85
DR   CLO; CLO_0031033
DR   Coriell; GM18308
DR   Wikidata; Q54849486
CC   Sequence variation: Mutation; HGNC; HGNC:21317; DYM; Simple; p.Tyr16Ter (c.48C>G); ClinVar=VCV000003184; Zygosity=Homozygous (Coriell=GM18308).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C124844; Dyggve-Melchior-Clausen syndrome
DI   ORDO; Orphanet_239; Dyggve-Melchior-Clausen disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
//