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Cellosaurus AIBNi014-A (CVCL_B3PY)

[Text version]
Cell line name AIBNi014-A
Synonyms hONS-derived A-T iPSC; A-T HL iPSC
Accession CVCL_B3PY
Resource Identification Initiative To cite this cell line use: AIBNi014-A (RRID:CVCL_B3PY)
Comments From: Australian Institute for Bioengineering and Nanotechnology; Brisbane; Australia.
Population: Caucasian.
Derived from site: In situ; Nose, nasal cavity, olfactory mucosa; UBERON=UBERON_0005386.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; c.1236-3dupT; ClinVar=VCV000181847; Zygosity=Homozygous (PubMed=34507142).
  • Mutation; HGNC; 795; ATM; Simple; p.Leu2135_Arg2136insTer (c.6404_6405insTT) (p.Arg2136fs); ClinVar=VCV000220763; Zygosity=Heterozygous (PubMed=34507142).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Children
Category Induced pluripotent stem cell
Publications

PubMed=34507142; DOI=10.1016/j.scr.2021.102528
Leeson H.C., Hunter Z.L., Chaggar H.K., Lavin M.F., Mackay-Sim A., Wolvetang E.J.
Ataxia telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations.
Stem Cell Res. 56:102528-102528(2021)

Cross-references
Cell line databases/resources hPSCreg; AIBNi014-A
Encyclopedic resources Wikidata; Q110432574
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4