ID   GM23415
AC   CVCL_BV65
DR   Coriell; GM23415
DR   Wikidata; Q54853058
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; c.1494-1G>A (c.1398-1G>A); ClinVar=VCV000094272; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM23415).
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Gln691Ter (c.2071C>T) (p.Gln709Ter, c.2125C>T); ClinVar=VCV000963357; Zygosity=Heterozygous (Coriell=GM23415).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142080; Limb-girdle muscular dystrophy type 2B
DI   ORDO; Orphanet_268; Dysferlin-related limb-girdle muscular dystrophy R2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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