ID   GM24356
AC   CVCL_BX18
DR   Coriell; GM24356
DR   Wikidata; Q54853735
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Lys4534del (c.13597AAG[1]) (c.13600_13602delAAG); ClinVar=VCV000590434; Zygosity=Heterozygous (Coriell=GM24356).
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   Male
AG   2Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 10
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