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Cellosaurus M494 (CVCL_JL80)

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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
Sen-Quan Liu, Zhao-Hui Ye, Yong-Xing Gao, Chao-Xia He, Donna W. Williams, Alison Rae Moliterno, Jerry Lepow Spivak, He Huang, Lin-Zhao Cheng;
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