ID   GM26119
AC   CVCL_RU01
DR   Coriell; GM26119
DR   Wikidata; Q54854083
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg975Trp (c.2923C>T); ClinVar=VCV000451566; Zygosity=Unspecified (Coriell=GM26119).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C83010; Central core disease
DI   ORDO; Orphanet_597; Central core disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   58Y
CA   Transformed cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//