Cellosaurus cell line AIBNi014-A (CVCL

Cross-references
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; HGNC:795; ATM; Simple; c.1236-3dupT; ClinVar=VCV000181847; Zygosity=Homozygous (PubMed=34507142). Mutation; HGNC; 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 Hannah C. Leeson, Zoe L. Hunter, Harman Kaur Chaggar, Martin Francis Lavin, Alan Mackay-Sim, Ernst J. Wolvetang; Ataxia telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations. Stem Cell Res. 56:102528-102528(2021)
Cell line databases/resources	hPSCreg; AIBNi014-A
Encyclopedic resources	Wikidata; Q110432574
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5