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Stem Cell Res. 2018 Apr;28:153-156. doi: 10.1016/j.scr.2018.02.016. Epub 2018 Feb 21.

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.

Author information

1
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
2
IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
3
University Milano Bicocca, Dep. Biotechnology and Biosciences, Piazza della Scienza 2, 20126 Milano, Italy.
4
University "La Sapienza", Dep. Cellular Biology, P.le Aldo Moro 5, 00185 Rome, Italy.
5
IRCCS Casa Sollievo della Sofferenza, Division of Internal Medicine and Chronobiology Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
6
Tor Vergata Hospital Foundation, Medical Genetics Unit, Rome, Italy.
7
Ospedale Pediatrico Meyer, Medical Genetics Unit, Florence, Italy.
8
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address: vescovia@gmail.com.
9
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address: j.rosati@css-mendel.it.

Abstract

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.

PMID:
29494847
DOI:
10.1016/j.scr.2018.02.016
[Indexed for MEDLINE]
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