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Cellosaurus JFNY1 (CVCL_AS41)

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Cell line name JFNY1
Synonyms JF25
Accession CVCL_AS41
Resource Identification Initiative To cite this cell line use: JFNY1 (RRID:CVCL_AS41)
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=jfny1).
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Arg1905Ter (c.5713C>T) (p.Arg1944Ter, c.5830C>T); ClinVar=VCV000006676; Zygosity=Heterozygous (WiCell=jfny1).
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_UA44 ! JFNY2
CVCL_UA45 ! JFNY3
CVCL_UA46 ! JFNY4
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; jfny1
Cell line databases/resources SKIP; SKIP004455
Encyclopedic resources Wikidata; Q54898608
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number16