Cellosaurus logo
expasy logo

Cellosaurus AB320LGMD2B29Q (CVCL_VG61)

[Text][XML][JSON]
Cell line name AB320LGMD2B29Q
Accession CVCL_VG61
Resource Identification Initiative To cite this cell line use: AB320LGMD2B29Q (RRID:CVCL_VG61)
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; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
Derived from site: In situ; Thigh, quadriceps skeletal muscle; UBERON=UBERON_0004498.
Cell type: Myoblast; CL=CL_0000056.
Sequence variations
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; c.342-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (Jain Foundation).
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Phe1172_Ser1173insTer (c.3516_3517delTT) (p.Ser1173Terfs) (p.Phe1190_Ser1191insTer, c.3570_3571del); ClinVar=VCV000217226; Zygosity=Heterozygous (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 Female
Age at sampling 29Y
Category Telomerase immortalized cell line
Web pages Provider; Jain Foundation; -; https://www.jain-foundation.org/research/access-resources/research-tools/cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q54607689
Entry history
Entry creation14-May-2018
Last entry update14-Aug-2025
Version number13