Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual
Summary
Mutations in TRAF7 cause developmental delay and cardiac, facial, digital anomalies. c.1964G > A variant was most recurrent, suggesting its essentiality of pathogenicity. Further studies to determine the underlying mechanism of c.1964G > A variant are warranted. But no patient-specific cellular models have been generated. Here, we generated an iPSC line with c.1964G > A variant (SHCMDLi001-A) and a line from healthy individual (SHCMDLi002-A). Characterization of SHCMDLi001-A and SHCMDLi002-A demonstrated these iPSCs are free of exogenous reprogramming genes, expressed pluripotency markers, exhibited a normal karyotype and were potential of three germ layer differentiation. These lines provide a valuable resource for studying disease-causing mechanism of TRAF7 variant. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Song X, Feng J, Lan X, Tang X, Xu W, Shen J, Yu G, Jia J, Zhang H, Lu Q, Wu S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102377 |
| PubMed | 34088006 |
| DOI | 10.1016/j.scr.2021.102377 |