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


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

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