Cellosaurus cell line LAD-III LCL family 2 subject (CVCL

Cross-references
Cell line name	LAD-III LCL family 2 subject
Accession	CVCL_VP17
Resource Identification Initiative	To cite this cell line use: LAD-III LCL family 2 subject (RRID:CVCL_VP17)
Comments	Population: Turkish. 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; Simple; p.Arg513Ter (c.1537C>T) (R509*); ClinVar=VCV000002712; Zygosity=Homozygous (PubMed=19234463).
Disease	Leukocyte adhesion deficiency type 3 (NCIt: C154615) Leukocyte adhesion deficiency type III (ORDO: Orphanet_99844)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
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)
Cell line collections (Providers)	CancerTools; 153769 Ximbio; 153769
Encyclopedic resources	Wikidata; Q95981193
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	10