ID   GM24268
AC   CVCL_AZ49
DR   Coriell; GM24268
DR   Wikidata; Q54853681
CC   Sequence variation: Mutation; HGNC; HGNC:2974; DNM2; Simple; p.Glu368Lys (c.1102G>A); ClinVar=VCV000007282; Zygosity=Heterozygous (Coriell=GM24268).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126689; Centronuclear myopathy 1
DI   ORDO; Orphanet_169189; Autosomal dominant centronuclear myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   21Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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