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Cellosaurus AT8BI (CVCL_B5MB)

[Text version]

Cell line name AT8BI
Synonyms Ataxia Telangiectasia 8 BIrmingham
Accession CVCL_B5MB
Resource Identification Initiative To cite this cell line use: AT8BI (RRID:CVCL_B5MB)
Comments Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV000187275; Zygosity=Unspecified (from autologous cell line).
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_7322 ! AT8BI LCL
Sex of cell Female
Age at sampling 28Y
Category Finite cell line
Publications

PubMed=3337113
Jaspers N.G.J., Taalman R.D.F.M., Baan C.
Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.
Am. J. Hum. Genet. 42:66-73(1988)

Cross-references
Encyclopedic resources Wikidata; Q111732943
Entry history
Entry creation17-Mar-2022
Last entry update23-Jun-2022
Version number2