ID   PEO4-iPSC-OSKM-03
AC   CVCL_B7JI
DR   Wikidata; Q114312650
RX   PubMed=34343671;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Tyr1655Tyr (c.4965C>T) (5193C>T); ClinVar=VCV001657967; Zygosity=Hemizygous; Note=De novo mutation that cancels the c.4965C>G (5193C>G) mutation in the patient (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 7765; NF1; Simple; p.Arg160Trp (c.478A>T); ClinVar=VCV000412204; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Gly244Asp (c.731G>A); ClinVar=VCV000372785; Zygosity=Homozygous (from parent cell line).
CC   Derived from site: Metastatic; Ascites; UBERON=UBERON_0007795.
DI   NCIt; C36101; BRCA2-associated hereditary breast and ovarian cancer syndrome
DI   NCIt; C5228; Ovarian cystadenocarcinoma
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2690 ! PEO4
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=34343671; DOI=10.1016/j.biocel.2021.106051;
RA   Bindhya S., Sidhanth C., Krishnapriya S., Garg M., Ganesan T.S.;
RT   "Development and in vitro characterisation of an induced pluripotent
RT   stem cell model of ovarian cancer.";
RL   Int. J. Biochem. Cell Biol. 138:106051.1-106051.15(2021).
//