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Cellosaurus JFMD6 (CVCL_UA43)

[Text version]
Cell line name JFMD6
Accession CVCL_UA43
Resource Identification Initiative To cite this cell line use: JFMD6 (RRID:CVCL_UA43)
Comments From: Jain Foundation; Seattle; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Asp295Glyfs*45 (c.879_883dupGACAG); Zygosity=Heterozygous (WiCell=jfmd6).
  • Mutation; HGNC; HGNC:3097; DYSF; Unexplicit; Ex52del; Zygosity=Heterozygous (WiCell=jfmd6).
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_AS37 ! JFMD2
CVCL_AS38 ! JFMD3
CVCL_AS39 ! JFMD4
CVCL_AS40 ! JFMD5
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; jfmd6
Encyclopedic resources Wikidata; Q94327747
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number10