Cellosaurus logo
expasy logo

Cellosaurus JFMD2 (CVCL_AS37)

[Text version]
Cell line name JFMD2
Accession CVCL_AS37
Resource Identification Initiative To cite this cell line use: JFMD2 (RRID:CVCL_AS37)
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.Asp295Glyfs*45 (c.879_883dupGACAG); Zygosity=Heterozygous (WiCell=jfmd2).
  • Mutation; HGNC; 3097; DYSF; Unexplicit; Ex52del; Zygosity=Heterozygous (WiCell=jfmd2).
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_AS36 ! JFMD1
CVCL_AS38 ! JFMD3
CVCL_AS39 ! JFMD4
CVCL_AS40 ! JFMD5
CVCL_UA43 ! JFMD6
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; jfmd2
Cell line databases/resources SKIP; SKIP004457
Encyclopedic resources Wikidata; Q54898604
Entry history
Entry creation02-May-2016
Last entry update05-Oct-2023
Version number15