ID   NH50282
AC   CVCL_YT96
SY   Q1SA
DR   GEO; GSM1847138
DR   GEO; GSM1847139
DR   NHCDR; NH50282
DR   Wikidata; Q98127745
RX   PubMed=26677768;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu522Ilefs (c.1564_1565delGA) (1563_1564delAG); ClinVar=VCV000127340; Zygosity=Heterozygous (PubMed=26677768).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser2394Leu (c.7181C>T); ClinVar=VCV000127437; Zygosity=Heterozygous (PubMed=26677768).
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   23Y1M
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=26677768; DOI=10.1016/j.stemcr.2015.10.010; PMCID=PMC4682125;
RA   Lin L., Swerdel M.R., Lazaropoulos M.P., Hoffman G.S.,
RA   Toro-Ramos A.J., Wright J., Lederman H.M., Chen J.-M., Moore J.C.,
RA   Hart R.P.;
RT   "Spontaneous ATM gene reversion in A-T iPSC to produce an isogenic
RT   cell line.";
RL   Stem Cell Reports 5:1097-1108(2015).
//