Family 1 subject - LAD-III Lymphoblastoid Cell Line
- Name Nancy Hogg
- Institute Cancer Research UK, London Research Institute: Lincoln's Inn Fields
Tool name: Family 1 subject - LAD-III 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 Maltese subject that has Leukocyte Adhesion Deficiency-III (LAD-III) with a mutation in the kindlin-3 gene. LCLs are also available from the mother, father and sister. This cell line was derived from 'Family 1 subject' as described in Svensson et al. 2009. N.Nat Med. 2009 Mar;15(3):306-12. PMID: 19234463. The Family 1 subject has a homozygous inactivating mutation within the splice acceptor site of exon 14 in the KINDLIN3 gene. 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.