ID   SCVIi083-A
AC   CVCL_D0L3
SY   SCVI-2655; SCVI2655
DR   BioSamples; SAMEA113437166
DR   hPSCreg; SCVIi083-A
DR   Wikidata; Q123033424
RX   PubMed=37951143;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Pro1382Serfs*6 (c.4143dupT); ClinVar=VCV000181880; Zygosity=Heterozygous (PubMed=37951143).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   ORDO; Orphanet_227535; Hereditary breast cancer
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   72Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=37951143; DOI=10.1016/j.scr.2023.103246;
RA   Zhang M., Venkateshappa R., Li A., Fowler M.B., Telli M.L., Wu J.C.;
RT   "Generation and characterization of induced pluripotent stem cells
RT   from breast cancer patients carrying ATM mutations.";
RL   Stem Cell Res. 73:103246-103246(2023).
//