Family 1 subject - LAD-III Lymphoblastoid Cell Line
Invented by Prof Nancy Hogg from Cancer Research UK London Research Institute: Lincoln's Inn Fields
Invented at Cancer Research UK London Research Institute: Lincoln's Inn Fields
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- References (2)
- Inventor Info
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: 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.
Add a reference
