Generation of patient-specific pluripotent induced stem cell line SDUBMSI002-A from a patient with X-linked mental retardation syndrome
2020
Xiaolin Liu | Xiaomeng Yang | Yue Li | Xiaojing Wang | Jian Ma | Wei Jiang | Yi Liu | Wenjie Sun | Yaoqin Gong
CUL4B gene encodes a scaffold protein that assembles the CRL4B ubiquitin ligase complex, and its mutation can causes X-Linked Mental Retardation (XLMR) emerged with intellectual deficit, delayed puberty, short stature and fine intention tremor. Here we report the generation of SDUBMSi002-A, an induced pluripotent stem cell line derived from patient with c. 1564C→T with CUL4B gene using non-integrative reprogramming technology. The iPSCs line expresses pluripotent markers, has a normal male karyotype and can differentiate into the three germ layers.
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