ID   AIBNi014-A
AC   CVCL_B3PY
SY   hONS-derived A-T iPSC; A-T HL iPSC
DR   hPSCreg; AIBNi014-A
DR   Wikidata; Q110432574
RX   PubMed=34507142;
CC   From: Australian Institute for Bioengineering and Nanotechnology; Brisbane; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; c.1236-3dupT; ClinVar=VCV000181847; Zygosity=Homozygous (PubMed=34507142).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Leu2135_Arg2136insTer (c.6404_6405insTT) (p.Arg2136fs); ClinVar=VCV000220763; Zygosity=Heterozygous (PubMed=34507142).
CC   Derived from site: In situ; Nose, nasal cavity, olfactory mucosa; UBERON=UBERON_0005386.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34507142; DOI=10.1016/j.scr.2021.102528;
RA   Leeson H.C., Hunter Z.L., Chaggar H.K., Lavin M.F., Mackay-Sim A.,
RA   Wolvetang E.J.;
RT   "Ataxia telangiectasia iPSC line generated from a patient olfactory
RT   biopsy identifies novel disease-causing mutations.";
RL   Stem Cell Res. 56:102528-102528(2021).
//