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Cellosaurus AT2SF (CVCL_V575)

[Text version]
Cell line name AT2SF
Synonyms Ataxia Telangiectasia 2 San Fransisco
Accession CVCL_V575
Resource Identification Initiative To cite this cell line use: AT2SF (RRID:CVCL_V575)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; p.Phe1774Lysfs*17 (c.5320_5326del) (c.5320del7); Zygosity=Heterozygous (PubMed=8845835).
  • Mutation; HGNC; 795; ATM; Simple; p.Trp2769Ter (c.8307G>A); ClinVar=VCV000189104; Zygosity=Heterozygous (PubMed=8845835).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F611 (TAT2SF)
Sex of cell Female
Category Finite cell line
Publications

PubMed=2987007; DOI=10.1016/0014-4827(85)90437-9
Murnane J.P., Fuller L.F., Painter R.B.
Establishment and characterization of a permanent pSV ori-transformed ataxia-telangiectasia cell line.
Exp. Cell Res. 158:119-126(1985)

PubMed=2903889; DOI=10.1080/09553008814552321
Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.
Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes.
Int. J. Radiat. Biol. 54:911-928(1988)

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

Cross-references
Encyclopedic resources Wikidata; Q54750909
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number14