Family 2 subject - LAD-III EBV Lymphoblastoid Cell Line
- Name Nancy Hogg
- Institute Cancer Research UK, London Research Institute: Lincoln's Inn Fields
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
Parental cell line:
Cancer type: Leukocyte Adhesion Deficiency-III (LAD-III)
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: Adhesion ; Immunology
- For Research Use Only
- • 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.