ID   UKAi003-A-1
AC   CVCL_A7GZ
SY   PV2 JAK2 V617F het
DR   BioSamples; SAMEA8686793
DR   hPSCreg; UKAi003-A-1
DR   Wikidata; Q107117218
CC   From: Universitatsklinikum Aachen; Aachen; Germany.
CC   Sequence variation: Mutation; HGNC; 6192; JAK2; Simple; p.Val617Phe (c.1849G>T); ClinVar=VCV000014662; Zygosity=Heterozygous (hPSCreg=UKAi003-A-1).
CC   Sequence variation: Mutation; HGNC; 6192; JAK2; Simple_corrected; p.Val617Phe (c.1849G>T); ClinVar=VCV000014662; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=UKAi003-A-1).
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)
HI   CVCL_A7GY ! UKAi003-A
SX   Male
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//