Cellosaurus logo
expasy logo

Cellosaurus AT7LA (CVCL_H134)

[Text version]
Cell line name AT7LA
Synonyms Ataxia Telangiectasia 7 Los Angeles; GM00717; GM-717; GM 717; GM717; GM00717A; GM-0717A; GM 717A; GM717A
Accession CVCL_H134
Resource Identification Initiative To cite this cell line use: AT7LA (RRID:CVCL_H134)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu522Ilefs (c.1564_1565delGA) (1563_1564delAG); ClinVar=VCV000127340; Zygosity=Homozygous; Note=Produces no detectable ATM protein by conventional immunoblotting (PubMed=8808599; PubMed=18634022).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=761484; DOI=10.1159/000131301
Maimon Moses Cohen, Michal Sagi, Z. Ben-Zur, Tamar Schaap, Ruth Voss, Gertrude Kohn, Hannah Ben-Bassat;
Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.
Cytogenet. Cell Genet. 23:44-52(1979)

PubMed=6197197; DOI=10.1016/0009-2797(83)90167-9
F. Paula Imray, Cheviot Kidson;
Responses of Huntington's disease and ataxia telangiectasia lymphoblastoid cells to bleomycin.
Chem. Biol. Interact. 47:325-336(1983)

PubMed=6504056; DOI=10.1016/0027-5107(84)90149-0
Philip Chen, F. Paula Imray, Cheviot Kidson;
Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations.
Mutat. Res. 129:165-172(1984)

PubMed=2805228; DOI=10.1093/carcin/10.11.2067
Izumi Arita, Akira Tachibana, Hiraku Takebe, Kouichi Tatsumi;
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=1561323; DOI=10.2307/3578485
Tej K. Pandita, Walter N. Hittelman;
Initial chromosome damage but not DNA damage is greater in ataxia telangiectasia cells.
Radiat. Res. 130:94-103(1992)

PubMed=7539412; DOI=10.1002/ijc.2910610524
Tej K. Pandita, Walter N. Hittelman;
Evidence of a chromatin basis for increased mutagen sensitivity associated with multiple primary malignancies of the head and neck.
Int. J. Cancer 61:738-743(1995)

PubMed=8808599; PMCID=PMC1914811
Jocyndra Wright, Sharon Teraoka, Suna Onengut, Aslihan Tolun, Richard A. Gatti, Hans D. Ochs, Patrick Concannon;
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Am. J. Hum. Genet. 59:839-846(1996)

PubMed=18634022; DOI=10.1002/humu.20805; PMCID=PMC2776735
Midori Mitui, Shareef A. Nahas, Liu-Tao Du, Z. Yang, Chih-Hung Lai, Kotoka Nakamura, S. Arroyo, Shaun P. Scott, Annilyn Purayidom, Patrick Concannon, Martin Francis Lavin, Richard A. Gatti;
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
Hum. Mutat. 30:12-21(2009)

Cross-references
Cell line collections (Providers) Coriell; GM00717
Cell line databases/resources CLO; CLO_0028790
Encyclopedic resources Wikidata; Q54836411
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number22