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

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

Stem Cell Research (Apr 2018)

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

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

Affiliations

Filomena Altieri: IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy
Elisa Maria Turco: IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy
Ersilia Vinci: IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy
Barbara Torres: IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy
Daniela Ferrari: University Milano Bicocca, Dep. Biotechnology and Biosciences, Piazza della Scienza 2, 20126 Milano, Italy
Antonella De Jaco: University “La Sapienza”, Dep. Cellular Biology, P.le Aldo Moro 5, 00185 Rome, Italy
Gianluigi Mazzoccoli: IRCCS Casa Sollievo della Sofferenza, Division of Internal Medicine and Chronobiology Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy
Giuseppe Lamorte: IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy
Annamaria Nardone: Tor Vergata Hospital Foundation, Medical Genetics Unit, Rome, Italy
Matteo Della Monica: Ospedale Pediatrico Meyer, Medical Genetics Unit, Florence, Italy
Laura Bernardini: IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy
Angelo Luigi Vescovi: IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Corresponding authors.
Jessica Rosati: IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Corresponding authors.

Journal volume & issue: Vol. 28
pp. 153 – 156

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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