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

构建了携带CBL基因突变的人类幼年型骨髓单核细胞白血病iPSC系CHOPi001-A

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作者:Alyssa L Gagne ,Jean Ann Maguire ,Shilpa Gandre-Babbe ,Stella T Chou ,Sarah K Tasian ,Mignon L Loh ,Mitchell J Weiss ,Paul Gadue ,Deborah L French

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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