ID   GM27126
AC   CVCL_WP11
DR   Coriell; GM27126
DR   Wikidata; Q93933018
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Arg249Trp (c.745C>T); ClinVar=VCV000014524; Zygosity=Heterozygous (Coriell=GM27126).
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   Male
AG   10Y
CA   Transformed cell line
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 9
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