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Cellosaurus RB [Human LGMD2B myoblast] (CVCL_VG63)

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Cell line name RB [Human LGMD2B myoblast]
Accession CVCL_VG63
Resource Identification Initiative To cite this cell line use: RB [Human LGMD2B myoblast] (RRID:CVCL_VG63)
Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
Derived from site: In situ; Forearm, muscle; UBERON=UBERON_0004254.
Cell type: Myoblast; CL=CL_0000056.
Sequence variations
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Glu1833Ter (c.5497G>T) (p.Glu1872Ter, c.5614G>T); ClinVar=VCV000094339; Zygosity=Heterozygous (Jain Foundation).
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; c.6063+1G>A (c.5946+1G>A); ClinVar=VCV000094349; Zygosity=Heterozygous; Note=Splice donor mutation (Jain Foundation).
Disease Limb-girdle muscular dystrophy type 2B (NCIt: C142080)
Dysferlin-related limb-girdle muscular dystrophy R2 (ORDO: Orphanet_268)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 43Y
Category Telomerase immortalized cell line
Web pages https://www.jain-foundation.org/research/access-resources/research-tools/cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q54949273
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number13