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Cellosaurus M494 (CVCL_JL80)

[Text version]
Cell line name M494
Accession CVCL_JL80
Resource Identification Initiative To cite this cell line use: M494 (RRID:CVCL_JL80)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7217; MPL; Simple; p.Val501Leu (c.1501G>C); Zygosity=Heterozygous (PubMed=28395806).
Disease Essential thrombocythemia (NCIt: C3407)
Essential thrombocythemia (ORDO: Orphanet_3318)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Adult
Category Induced pluripotent stem cell
Publications

PubMed=28395806; DOI=10.1016/j.scr.2016.12.012
Liu S.-Q., Ye Z.-H., Gao Y.-X., He C.-X., Williams D.W., Moliterno A.R., Spivak J.L., Huang H., Cheng L.-Z.
Generation of human iPSCs from an essential thrombocythemia patient carrying a V501L mutation in the MPL gene.
Stem Cell Res. 18:57-59(2017)

Cross-references
Encyclopedic resources Wikidata; Q54903621
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number8