ID   GM23426
AC   CVCL_BV68
DR   Coriell; GM23426
DR   Wikidata; Q54853069
CC   Sequence variation: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Ile113Thr (c.338T>C); ClinVar=VCV000283107; Zygosity=Heterozygous (Coriell=GM23426).
CC   Sequence variation: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Phe200_Leu204del (c.598_612del15); ClinVar=VCV000166786; Zygosity=Heterozygous (Coriell=GM23426).
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   Male
AG   29Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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