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Contributor Information

  • Name Nancy Hogg
  • Institute Cancer Research UK, London Research Institute: Lincoln's Inn Fields

Tool Details

  • Tool name: Family 2 subject - LAD-III EBV Lymphoblastoid Cell Line
  • Alternate names: Fermitin family homolog 3, MIG2-like protein, Unc-112-related protein 2
  • Tool type: Cell Lines
  • Organism: Human
  • Tissue: Blood
  • Cancer type: Blood cancer
  • Disease: Cancer
  • Growth properties: Suspension, lymphoblastoid cell line
  • Description: An EBV-transformed B lymphoblastoid cell line (LCL) derived from a Turkish subject that has Leukocyte Adhesion Deficiency-III (LAD-III) with a mutation in the kindlin-3 gene. LCLs are also available from the father. This cell line was derived from 'Family 2 subject' as described in Svensson et al. 2009. N.Nat Med. 2009 Mar;15(3):306-12. PMID: 19234463. The Family 2 subject has an inactivating mutation in exon 12 of the KINDLIN3 gene resulting in a translational stop codon. This mutation leads to an overall decrease in KINDLIN3 mRNA levels and loss of protein expression.
  • Research area: Cell biology; Immunology

  • For Research Use Only

Target Details

  • Target: Kindlin-3, UniProt ID:Q86UX7

Application Details

Handling

  • Format: Frozen
  • Growth medium: RPMI-1640 + 10% FCS
  • Storage conditions: Liquid Nitrogen
  • Shipping conditions: Dry ice
  • Mycoplasma free: Yes
  • Biosafety level: 1

Documentation

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References

  • •  Svensson et al. 2009. Nat Med. 15(3):306-12. PMID: 19234463.
  • •  Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.