ID   UKAi002-B
AC   CVCL_A7GV
SY   PBMNC2_hiPS_009; PV1 JAK2 V617F het
DR   BioSamples; SAMEA8549164
DR   hPSCreg; UKAi002-B
DR   Wikidata; Q107117214
CC   From: Universitatsklinikum Aachen; Aachen; Germany.
CC   Sequence variation: Mutation; HGNC; 6192; JAK2; Simple; p.Val617Phe (c.1849G>T); ClinVar=VCV000014662; Zygosity=Heterozygous (hPSCreg=UKAi002-B).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3336; Polycythemia vera
DI   ORDO; Orphanet_729; Polycythemia vera
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A7GU ! UKAi002-A
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//