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Cellosaurus ER (CVCL_VG62)

[Text version]
Cell line name ER
Accession CVCL_VG62
Resource Identification Initiative To cite this cell line use: ER (RRID:CVCL_VG62)
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; Thigh, quadriceps skeletal muscle; UBERON=UBERON_0004498.
Cell type: Myoblast; CL=CL_0000056.
Sequence variations
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Gly1628Arg (c.4882G>A) (p.Gly1667Val, c.5000G>T); ClinVar=VCV000658470; Zygosity=Homozygous (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 17Y
Category Telomerase immortalized cell line
Web pages https://www.jain-foundation.org/research/access-resources/research-tools/cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q54832414
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number10