| Cell line name |
AT44RM |
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| Synonyms |
Ataxia Telangiectasia 44 RoMa |
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| Accession |
CVCL_XF25 |
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| Resource Identification Initiative |
To cite this cell line use: AT44RM (RRID:CVCL_XF25) |
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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.1607+1G>T (IVS12+1G>T); ClinVar=VCV000220555; Zygosity=Homozygous; Note=Splice donor mutation (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, Minoru 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=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285
Monia Magliozzi, Maria Piane, Isabella Torrente, Lorenzo Sinibaldi, Giovanni Rizzo, Camilla Savio, Patrizia Lulli, Alessandro De Luca, Bruno Dallapiccola, Luciana Chessa;
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Dis. Markers 22:257-264(2006) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q93326339
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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 | 11 |
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