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Cellosaurus LAD-III LCL family 1 father (CVCL_VP08)

[Text version]
Cell line name LAD-III LCL family 1 father
Accession CVCL_VP08
Resource Identification Initiative To cite this cell line use: LAD-III LCL family 1 father (RRID:CVCL_VP08)
Comments Population: Maltese.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:23151; FERMT3; Unexplicit; IVS13AS,A-G,-2; ClinVar=VCV000002708; Zygosity=Heterozygous; Note=Frameshift mutation (PubMed=19234463).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Transformed cell line
Publications

PubMed=19234463; DOI=10.1038/nm.1931; PMCID=PMC2680140
Svensson L., Howarth K., McDowall A., Patzak I., Evans R., Ussar S., Moser M., Metin A., Fried M., Tomlinson I.P.M., Hogg N.
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.
Nat. Med. 15:306-312(2009)

Cross-references
Cell line collections (Providers) CancerTools; 153765
Ximbio; 153765
Encyclopedic resources Wikidata; Q95981184
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number9