ID   NH50281
AC   CVCL_YT95
SY   CAR3
DR   NHCDR; NH50281
DR   Wikidata; Q98127744
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   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 7
//
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).
//