ID   UNIBSi008-B
AC   CVCL_YB52
SY   AT-MC-C2
DR   hPSCreg; UNIBSi008-B
DR   Wikidata; Q98134290
RX   PubMed=31669783;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; chr11:g.108105741_108115748del (Ex5-7del); Zygosity=Heterozygous (PubMed=31669783).
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_YB51 ! UNIBSi008-A
OI   CVCL_YB53 ! UNIBSi008-C
SX   Female
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 30-01-24; Version: 7
//
RX   PubMed=31669783; DOI=10.1016/j.scr.2019.101596;
RA   Masneri S., Ferraro R.M., Lanzi G., Piovani G., Mori L., Barisani C.,
RA   Moratto D., Plebani A., Badolato R., Soresina A., Giliani S.C.;
RT   "Generation of induced pluripotent stem cells (UNIBSi008-A,
RT   UNIBSi008-B, UNIBSi008-C) from an ataxia-telangiectasia (AT) patient
RT   carrying a novel homozygous deletion in ATM gene.";
RL   Stem Cell Res. 41:101596-101596(2019).
//