Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome
Summary
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Altieri F, Turco EM, Vinci E, Torres B, Ferrari D, De Jaco A, Mazzoccoli G, Lamorte G, Nardone A, Della Monica M, Bernardini L, Vescovi AL, Rosati J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Apr;28:153-156 |
| PubMed | 29494847 |
| DOI | 10.1016/j.scr.2018.02.016 |