ID   GM23316
AC   CVCL_AY66
DR   Coriell; GM23316
DR   Wikidata; Q54852992
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Ser2099_Val2117dup (c.6295_6351dup57); ClinVar=VCV000478252; Zygosity=Heterozygous (Coriell=GM23316).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   33Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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