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Family 1 subject - LAD-III Lymphoblastoid Cell Line

Invented by Prof Nancy Hogg at Cancer Research UK London Research Institute: Lincoln's Inn Fields

Info

Catalogue Number 153766
Antigen/Gene or Protein Targets Kindlin-3, UniProt ID:Q86UX7
Synonyms Fermitin family homolog 3, MIG2-like protein, Unc-112-related protein 2
Host Human
Disease Keywords Leukocyte Adhesion Deficiency-III (LAD-III)
Relevance 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, Cardiovascular, Immunology
Growth/Phenotype Keywords Suspension, lymphoblastoid cell line
Recommended Growing Conditions RPMI-1640 + 10% FCS

References

There are 2 reference entries for this reagent.

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References: 2 entries

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.

Europe PMC ID: 19234463


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References: 2 entries

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.


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