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Cellosaurus GM22693 (CVCL_HL21)

[Text version]
Cell line name GM22693
Synonyms YS3
Accession CVCL_HL21
Resource Identification Initiative To cite this cell line use: GM22693 (RRID:CVCL_HL21)
Comments Population: Caucasian; Circassian.
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.Thr1885fs (c.5653delA); Zygosity=Homozygous (PubMed=17632790).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_HL19 ! GM22691
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
Publications

PubMed=17632790; DOI=10.1002/ajmg.a.31853
Alterman N., Fattal-Valevski A., Moyal L., Crawford T.O., Lederman H.M., Ziv Y., Shiloh Y.
Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
Am. J. Med. Genet. A 143:1827-1834(2007)

Cross-references
Cell line collections (Providers) Coriell; GM22693
Encyclopedic resources Wikidata; Q54852737
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number9