ID   GM26155
AC   CVCL_A2VV
DR   Coriell; GM26155
DR   Wikidata; Q105507026
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Gly4444_Gly4450dup (c.13331_13351dup); ClinVar=VCV000478183; Zygosity=Heterozygous (Coriell=GM26155).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg4861His (c.14582G>A); ClinVar=VCV000012982; Zygosity=Heterozygous (Coriell=GM26155).
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   49Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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