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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

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)

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