Generation of patient-specific pluripotent induced stem cell line SDUBMSi002-A from a patient with X-linked Mental Retardation Syndrome

2020 
Abstract 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.
    • Correction
    • Source
    • Cite
    • Save
    • Machine Reading By IdeaReader
    2
    References
    1
    Citations
    NaN
    KQI
    []