ID   GM25516
AC   CVCL_VI97
DR   Coriell; GM25516
DR   Wikidata; Q93931854
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg109Trp (c.325C>T); ClinVar=VCV000012988; Zygosity=Heterozygous (Coriell=GM25516).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg2241Ter (c.6721C>T); Zygosity=Heterozygous (Coriell=GM25516).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_AD82 ! GM23800
SX   Male
AG   34Y
CA   Finite cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 11
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