Cellosaurus cell line FD106 (CVCL

Cross-references
Cell line name	FD106
Accession	CVCL_ZT75
Resource Identification Initiative	To cite this cell line use: FD106 (RRID:CVCL_ZT75)
Comments	Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:11730; TERT. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:15984; APTX; Simple; p.Trp279Ter (c.837G>A); ClinVar=VCV000004431; Zygosity=Homozygous (PubMed=15380105).
Disease	Ataxia-oculomotor apraxia type 1 (NCIt: C173401) Ataxia-oculomotor apraxia type 1 (ORDO: Orphanet_1168)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Telomerase immortalized cell line
Publications	PubMed=15380105; DOI=10.1016/j.dnarep.2004.06.017 Paula M. Clements, Claire Breslin, Emma D. Deeks, Philip J. Byrd, Li-Mei Ju, Pawel Bieganowski, Charles Brenner, Maria-Ceu Moreira, Alexander Malcolm R. Taylor, Keith W. Caldecott; The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. DNA Repair 3:1493-1502(2004)
Encyclopedic resources	Wikidata; Q98126015
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8