ID   SF-003
AC   CVCL_A4MT
DR   Wikidata; Q105511026
RX   PubMed=27879207;
CC   From: Johns Hopkins University School of Medicine; Baltimore; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Tyr1124Thrfs*4 (c.3369delA); ClinVar=VCV000141444; Zygosity=Heterozygous (PubMed=27879207).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Tyr1252Glnfs*4 (c.3754_3756delTATinsCA); ClinVar=VCV000185042; Zygosity=Heterozygous (PubMed=27879207).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=27879207; DOI=10.1016/j.scr.2016.08.003;
RA   Bhatt N., Ghosh R., Roy S., Gao Y.-X., Armanios M., Cheng L.-Z.,
RA   Franco S.;
RT   "Integration-free erythroblast-derived human induced pluripotent stem
RT   cells (iPSCs) from an individual with ataxia-telangiectasia (A-T).";
RL   Stem Cell Res. 17:205-207(2016).
//