ID   M494
AC   CVCL_JL80
DR   Wikidata; Q54903621
RX   PubMed=28395806;
CC   Sequence variation: Mutation; HGNC; HGNC:7217; MPL; Simple; p.Val501Leu (c.1501G>C); Zygosity=Heterozygous (PubMed=28395806).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3407; Essential thrombocythemia
DI   ORDO; Orphanet_3318; Essential thrombocythemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 8
//
RX   PubMed=28395806; DOI=10.1016/j.scr.2016.12.012;
RA   Liu S.-Q., Ye Z.-H., Gao Y.-X., He C.-X., Williams D.W., Moliterno A.R.,
RA   Spivak J.L., Huang H., Cheng L.-Z.;
RT   "Generation of human iPSCs from an essential thrombocythemia patient
RT   carrying a V501L mutation in the MPL gene.";
RL   Stem Cell Res. 18:57-59(2017).
//