Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL
Summary
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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Gagne AL, Maguire JA, Gandre-Babbe S, Chou ST, Tasian SK, Loh ML, Weiss MJ, Gadue P, French DL |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Aug;31:157-160 |
| PubMed | 30096712 |
| PubMed Central | PMC7885123 |
| DOI | 10.1016/j.scr.2018.07.001 |