Article
Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL.
Stem cell research - 1 Aug 2018
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
Abstract excerpt
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...
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