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Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL.

  • Author(s): Gagne, Alyssa L;
  • Maguire, Jean Ann;
  • Gandre-Babbe, Shilpa;
  • Chou, Stella T;
  • Tasian, Sarah K;
  • Loh, Mignon L;
  • Weiss, Mitchell J;
  • Gadue, Paul;
  • French, Deborah L
  • et al.
Abstract

Juvenile myelomonocytic leukemia (JMML) is a rare myeloproliferative disorder of early childhood characterized by expansion of clonal myelomonocytic cells and hyperactive Ras/MAPK signaling. The disorder is caused by somatic and/or germline mutations in genes involved in the Ras/MAPK and JAK/STAT signaling pathways, including CBL. Here we describe the generation of an iPSC line with a homozygous CBL c.1111T->C (Y371H) mutation, designated CHOPJMML1854.

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