ID   LAD-III LCL family 1 father
AC   CVCL_VP08
DR   CancerTools; 153765
DR   Wikidata; Q95981184
DR   Ximbio; 153765
RX   PubMed=19234463;
CC   Population: Maltese.
CC   Sequence variation: Mutation; HGNC; HGNC:23151; FERMT3; Unexplicit; IVS13AS,A-G,-2; ClinVar=VCV000002708; Zygosity=Heterozygous; Note=Frameshift mutation (PubMed=19234463).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Transformed cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
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RX   PubMed=19234463; DOI=10.1038/nm.1931; PMCID=PMC2680140;
RA   Svensson L., Howarth K., McDowall A., Patzak I., Evans R., Ussar S.,
RA   Moser M., Metin A., Fried M., Tomlinson I.P.M., Hogg N.;
RT   "Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3
RT   affecting integrin activation.";
RL   Nat. Med. 15:306-312(2009).
//