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
oleh: Filomena Altieri, Elisa Maria Turco, Ersilia Vinci, Barbara Torres, Daniela Ferrari, Antonella De Jaco, Gianluigi Mazzoccoli, Giuseppe Lamorte, Annamaria Nardone, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2018-04-01 |
Deskripsi
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.