ID   NH50283
AC   CVCL_YT97
SY   Q3SA
DR   GEO; GSM1847140
DR   GEO; GSM1847141
DR   NHCDR; NH50283
DR   Wikidata; Q98127746
RX   PubMed=26677768;
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu73Metfs*26 (c.217_218delGA); ClinVar=VCV000569567; Zygosity=Heterozygous (PubMed=26677768).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2598Ter (c.7792C>T); ClinVar=VCV000265383; Zygosity=Heterozygous (PubMed=26677768).
CC   Omics: Transcriptome analysis by 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)
OI   CVCL_YT98 ! NH50284
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
//
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).
//