ID   GM23421
AC   CVCL_BX02
DR   Coriell; GM23421
DR   Wikidata; Q54853065
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Arg249Gln (c.746G>A); ClinVar=VCV000066931; Zygosity=Unspecified (Coriell=GM23421).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126745; Emery-Dreifuss muscular dystrophy 2, autosomal dominant
DI   ORDO; Orphanet_98853; Autosomal dominant Emery-Dreifuss muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   34Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
//