ID   GM27125
AC   CVCL_A2PY
DR   Coriell; GM27125
DR   Wikidata; Q105507093
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; c.39893-1G>A (IVS192-1G>A) (c.37112-1G>A, IVS191-1G>A); ClinVar=VCV000202368; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM27125).
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   Female
AG   49Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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