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Cellosaurus JFNY3 (CVCL_UA45)

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Cell line name JFNY3
Accession CVCL_UA45
Resource Identification Initiative To cite this cell line use: JFNY3 (RRID:CVCL_UA45)
Comments From: Jain Foundation; Seattle; USA.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Ser1173Phefs*2 (c.3517dupT) (p.Ser1191Phefs*2, c.3571dupT); ClinVar=VCV000370730; Zygosity=Heterozygous (WiCell=jfny3).
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Arg1905Ter (c.5713C>T) (p.Arg1944Ter, c.5830C>T); ClinVar=VCV000006676; Zygosity=Heterozygous (WiCell=jfny3).
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_UA46 ! JFNY4
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; jfny3
Encyclopedic resources Wikidata; Q94327761
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number10