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
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2018 | 起止号: | 2018 Aug:31:157-160. |
| doi: | 10.1016/j.scr.2018.07.001 | 种属: | Human |
| 研究方向: | 肿瘤 | 疾病类型: | 白血病 |
| 细胞类型: | 单核细胞 | |
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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