ID   GM16864
AC   CVCL_6B22
DR   CLO; CLO_0018131
DR   Coriell; GM16864
DR   Wikidata; Q54848791
CC   Sequence variation: Mutation; HGNC; HGNC:3331; EMD; Simple; p.Gln219Trpfs*20 (c.650_654dupTGGGC) (1712-1713insTGGGC); ClinVar=VCV000179133; Zygosity=Hemizygous (Coriell=GM16864).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168730; Emery-Dreifuss muscular dystrophy 1, X-linked
DI   ORDO; Orphanet_98863; X-linked Emery-Dreifuss muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   57Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
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