ID   GM23707
AC   CVCL_6B21
DR   Coriell; GM23707
DR   Wikidata; Q54853252
CC   Sequence variation: Mutation; HGNC; HGNC:3331; EMD; Simple; p.Gln119Argfs*2 (c.356delA); Zygosity=Hemizygous (Coriell=GM23707).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84685; Emery-Dreifuss muscular dystrophy
DI   ORDO; Orphanet_261; Emery-Dreifuss muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
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