| 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; 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; 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; PMCID=PMC2363260
Domenico Delia, Shuki Mizutani, Silvia Panigone, Elda Tagliabue, Enrico Fontanella, M. Asada, Takayuki Yamada, Yoichi Taya, Sabrina Prudente, Silvia Saviozzi, Luigi Frati ...Show all 13 authors... , Marco Alessandro Pierotti, Luciana Chessa; Show fewer authors
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
Rika Tsuchida, Takayuki Yamada, Masatoshi Takagi, Akira Shimada, Chikashi Ishioka, Yoko Katsuki, Takashi Igarashi, Luciana Chessa, Domenico Delia, Hirobumi Teraoka, Shuki Mizutani;
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 | 19-Dec-2024 |
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| Version number | 10 |
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