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Cellosaurus LAD-III LCL family 1 sibling (CVCL_VP10)

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Cell line name LAD-III LCL family 1 sibling
Accession CVCL_VP10
Resource Identification Initiative To cite this cell line use: LAD-III LCL family 1 sibling (RRID:CVCL_VP10)
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 Female
Age at sampling Children
Category Transformed cell line
Publications

PubMed=19234463; DOI=10.1038/nm.1931; PMCID=PMC2680140
Lena Svensson, Kimberley Howarth, Alison McDowall, Irene Patzak, Rachel Evans, Siegfried Ussar, Markus Moser, Ayse Metin, Mike Fried, Ian Philip Mark Tomlinson, Nancy Hogg;
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; 153763
Ximbio; 153763
Encyclopedic resources Wikidata; Q95981187
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number9