ID   GM23800
AC   CVCL_AD82
DR   Coriell; GM23800
DR   Wikidata; Q54853319
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg109Trp (c.325C>T); ClinVar=VCV000012988; Zygosity=Heterozygous (Coriell=GM23800).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg2241Ter (c.6721C>T); Zygosity=Heterozygous (Coriell=GM23800).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C150608; Minicore myopathy with external ophthalmoplegia
DI   ORDO; Orphanet_98905; Congenital multicore myopathy with external ophthalmoplegia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VI97 ! GM25516
SX   Male
AG   30Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
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