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Cellosaurus AT8BI (CVCL_B5MB)

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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 Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV000187275; Zygosity=Unspecified (from autologous cell line AT8BI LCL).
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; PMCID=PMC1715319
Nicolaas G.J. Jaspers, Rob Desire F.M. Taalman, Carla C. Baan;
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 update10-Apr-2025
Version number7