| Cell line name |
AT65RM |
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| Synonyms |
Ataxia Telangiectasia 65 RoMa |
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| Accession |
CVCL_XF31 |
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| Resource Identification Initiative |
To cite this cell line use: AT65RM (RRID:CVCL_XF31) |
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| Comments |
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; 795; ATM; Simple; c.6573-9G>A (IVS47-9G>A); ClinVar=VCV000642095; Zygosity=Heterozygous; Note=Activates a cryptic splice site (PubMed=10864201).
- Mutation; HGNC; 795; ATM; Simple; p.Met2938Ilefs (c.8814_8824delGAGAAACTCTC) (8814del11); ClinVar=VCV000370841; Zygosity=Heterozygous (PubMed=10864201).
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| Disease |
Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Category |
Transformed cell line |
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| Publications | PubMed=10864201; DOI=10.1054/bjoc.2000.1168
Delia D., Mizutani S., Panigone S., Tagliabue E., Fontanella E., Asada M., Yamada T., Taya Y., Prudente S., Saviozzi S., Frati L., Pierotti M.A., Chessa L.
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
Br. J. Cancer 82:1938-1945(2000) PubMed=12105990; DOI=10.1667/0033-7587(2002)158[0195:DOAGMI]2.0.CO;2
Tsuchida R., Yamada T., Takagi M., Shimada A., Ishioka C., Katsuki Y., Igarashi T., Chessa L., Delia D., Teraoka H., Mizutani S.
Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast.
Radiat. Res. 158:195-201(2002) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q93326421
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| Entry history |
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| Entry creation | 06-Sep-2019 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 9 |
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