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Cellosaurus AT95RM (CVCL_XX62)

[Text version]
Cell line name AT95RM
Synonyms Ataxia Telangiectasia 95 RoMa
Accession CVCL_XX62
Resource Identification Initiative To cite this cell line use: AT95RM (RRID:CVCL_XX62)
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; c.1607+1G>T (IVS12+1G>T); ClinVar=VCV000220555; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=17124347).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1192Lys (c.3576G>A) (3403del174) (Ex26del); ClinVar=VCV000003035; Zygosity=Heterozygous (PubMed=17124347).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Transformed cell line
Publications

PubMed=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285
Magliozzi M., Piane M., Torrente I., Sinibaldi L., Rizzo G., Savio C., Lulli P., De Luca A., Dallapiccola B., Chessa L.
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Dis. Markers 22:257-264(2006)

Cross-references
Encyclopedic resources Wikidata; Q93326501
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10