ID   UKAi002-B-1
AC   CVCL_A7GX
SY   PV1 JAK2 V617F het:CXCL4 KO; JAK2 V617Fhet:CXCL4KO
DR   BioSamples; SAMEA8686795
DR   hPSCreg; UKAi002-B-1
DR   Wikidata; Q107117215
RX   PubMed=34391098;
CC   From: Universitatsklinikum Aachen; Aachen; Germany.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 8861; PF4.
CC   Sequence variation: Mutation; HGNC; 6192; JAK2; Simple; p.Val617Phe (c.1849G>T); ClinVar=VCV000014662; Zygosity=Heterozygous (PubMed=34391098).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34391098
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 12,13
ST   D16S539: 11,14
ST   D18S51: 16
ST   D19S433: 13,14
ST   D21S11: 29,30.2
ST   D2S1338: 17,25
ST   D3S1358: 15,16
ST   D5S818: 11,13
ST   D7S820: 8,9
ST   D8S1179: 12,15
ST   FGA: 24
ST   TH01: 9,9.3
ST   TPOX: 8,10
ST   vWA: 15,16
DI   NCIt; C3336; Polycythemia vera
DI   ORDO; Orphanet_729; Polycythemia vera
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A7GV ! UKAi002-B
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34391098; DOI=10.1016/j.scr.2021.102490;
RA   Boehnke J., Atakhanov S., de Toledo M.A.S., Schuler H.M., Sontag S.,
RA   Chatain N., Koschmieder S., Brummendorf T.H., Kramann R., Zenke M.;
RT   "CRISPR/Cas9 mediated CXCL4 knockout in human iPS cells of
RT   polycythemia vera patient with JAK2 V617F mutation.";
RL   Stem Cell Res. 55:102490-102490(2021).
//