ID   GM26153
AC   CVCL_A2VT
DR   Coriell; GM26153
DR   Wikidata; Q105507021
CC   Population: Caucasian; British/Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:90; ACADS; Simple; p.Arg171Trp (c.511C>T) (R147W); ClinVar=VCV000003830; Zygosity=Homozygous (Coriell=GM26153).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Lys3867Thr (c.11600A>C); ClinVar=VCV000544409; Zygosity=Heterozygous (Coriell=GM26153).
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   41Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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