ID   LAD-III LCL family 2 subject
AC   CVCL_VP17
DR   CancerTools; 153769
DR   Wikidata; Q95981193
DR   Ximbio; 153769
RX   PubMed=19234463;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:23151; FERMT3; Simple; p.Arg513Ter (c.1537C>T) (R509*); ClinVar=VCV000002712; Zygosity=Homozygous (PubMed=19234463).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C154615; Leukocyte adhesion deficiency type 3
DI   ORDO; Orphanet_99844; Leukocyte adhesion deficiency type III
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Transformed cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 10
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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).
//