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Cellosaurus AT3NG (CVCL_A0EV)

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Cell line name AT3NG
Synonyms Ataxia Telangiectasia 3 NijmeGen
Accession CVCL_A0EV
Resource Identification Initiative To cite this cell line use: AT3NG (RRID:CVCL_A0EV)
Comments Population: Caucasian; Dutch.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser2860del (c.8575TCT[1]) (c.8578_8580delTCT) (Ser1512del); ClinVar=VCV000003018; Zygosity=Homozygous (PubMed=7792600).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=7792600; DOI=10.1126/science.7792600
Kinneret Savitsky, Anat Bar-Shira, Shlomit Gilad, Galit Rotman, Yael Ziv, Lina Vanagaite, Danilo A. Tagle, Sara Smith, Tamar Uziel, Sharon Sfez, Maya Ashkenazi ...Show all 30 authors... , Iris Pecker, Moshe Frydman, Reli Harnik, Sankhavaram R. Patanjali, Andrew D. Simmons, Gregory A. Clines, Adam Sartiel, Richard A. Gatti, Luciana Chessa, Ozden Sanal, Martin Francis Lavin, Nicolaas G.J. Jaspers, Alexander Malcolm R. Taylor, Colin Francis Arlett, Toru Miki, Sherman Morton Weissman, Michael Lovett, Francis Sellers Collins, Yosef Shiloh; Show fewer authors
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
Science 268:1749-1753(1995)

Cross-references
Encyclopedic resources Wikidata; Q108819859
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6