Cellosaurus cell line (CVCL

Entry history
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	Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Category	Telomerase immortalized cell line
Publications	Unique gene expression signatures of independently-derived human embryonic stem cell lines. Hum. Mol. Genet. 13:601-608(2004) Kensuke Miki, Dai Ayusawa, Michihiko Fujii, Susumu Iiizumi, Noritaka Adachi; The requirement of Artemis in double-strand break repair depends on the type of DNA damage. DNA Cell Biol. 27:55-61(2008)
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8