Cellosaurus logo
expasy logo

Cellosaurus JFNY4 (CVCL_UA46)

[Text version]
Cell line name JFNY4
Accession CVCL_UA46
Resource Identification Initiative To cite this cell line use: JFNY4 (RRID:CVCL_UA46)
Comments From: Jain Foundation; Seattle; USA.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3097; DYSF; Simple; p.Ser1173Phefs*2 (c.3517dupT) (p.Ser1191Phefs*2, c.3571dupT); ClinVar=VCV000370730; Zygosity=Heterozygous (WiCell=jfny4).
  • Mutation; HGNC; 3097; DYSF; Simple; p.Arg1905Ter (c.5713C>T) (p.Arg1944Ter, c.5830C>T); ClinVar=VCV000006676; Zygosity=Heterozygous (WiCell=jfny4).
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_AS41 ! JFNY1
CVCL_UA44 ! JFNY2
CVCL_UA45 ! JFNY3
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; jfny4
Encyclopedic resources Wikidata; Q94327765
Entry history
Entry creation13-Nov-2018
Last entry update05-Oct-2023
Version number9