Cellosaurus logo
expasy logo

Cellosaurus JFRBi1 (CVCL_AS42)

[Text version]
Cell line name JFRBi1
Accession CVCL_AS42
Resource Identification Initiative To cite this cell line use: JFRBi1 (RRID:CVCL_AS42)
Comments From: Jain Foundation; Seattle; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3097; DYSF; Simple; p.Glu1833Ter (c.5497G>T) (p.Glu1872Ter, c.5614G>T); ClinVar=VCV000094339; Zygosity=Heterozygous (WiCell=jfrbi1).
  • Mutation; HGNC; 3097; DYSF; Simple; c.6063+1G>A (c.5946+1G>A); ClinVar=VCV000094349; Zygosity=Heterozygous; Note=Splice donor mutation (WiCell=jfrbi1).
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)
Originate from same individual CVCL_AS43 ! JFRBi2
CVCL_AS44 ! JFRBi3
CVCL_AS45 ! JFRBi4
CVCL_UA47 ! JFRBi5
Sex of cell Male
Age at sampling 48Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; jfrbi1
Cell line databases/resources SKIP; SKIP004462
Encyclopedic resources Wikidata; Q54898612
Entry history
Entry creation02-May-2016
Last entry update05-Oct-2023
Version number17