ID   SCVIi081-A
AC   CVCL_D0L1
SY   SCVI-2535; SCVI2535
DR   BioSamples; SAMEA113429116
DR   hPSCreg; SCVIi081-A
DR   Wikidata; Q123033421
RX   PubMed=37816281;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Asp2723His (c.8167G>C) (8395G>C); ClinVar=VCV000052515; Zygosity=Heterozygous (PubMed=37816281).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36101; BRCA2-associated hereditary breast and ovarian cancer syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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RX   PubMed=37816281; DOI=10.1016/j.scr.2023.103219; PMCID=PMC10902209;
RA   Zhang M., Liu W.-Q., Li A., Htet M.H., Yu R., Telli M.L., Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from breast
RT   cancer patients carrying BRCA2 variants.";
RL   Stem Cell Res. 72:103219-103219(2023).
//