ID   GM17726
AC   CVCL_BT39
DR   CLO; CLO_0016992
DR   Coriell; GM17726
DR   Wikidata; Q54849123
CC   Sequence variation: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Thr184Argfs*36 (c.550delA); ClinVar=VCV000017621; Zygosity=Heterozygous (Coriell=GM17726).
CC   Sequence variation: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Arg490Gln (c.1469G>A); ClinVar=VCV000017622; Zygosity=Heterozygous (Coriell=GM17726).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142079; Limb-girdle muscular dystrophy type 2A
DI   ORDO; Orphanet_267; Autosomal recessive limb-girdle muscular dystrophy type 2A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   48Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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