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

doi:10.1016/j.scr.2018.02.016

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

Academic Institute

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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.

Original language	English (US)
Pages (from-to)	153-156
Number of pages	4
Journal	Stem Cell Research
Volume	28
DOIs	https://doi.org/10.1016/j.scr.2018.02.016
State	Published - Apr 2018

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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10.1016/j.scr.2018.02.016

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Altieri, F., Turco, E. M., Vinci, E., Torres, B., Ferrari, D., De Jaco, A., Mazzoccoli, G., Lamorte, G., Nardone, A., Della Monica, M., Bernardini, L., Vescovi, A. L., & Rosati, J. (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. Stem Cell Research, 28, 153-156. https://doi.org/10.1016/j.scr.2018.02.016

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 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', Stem Cell Research, vol. 28, pp. 153-156. https://doi.org/10.1016/j.scr.2018.02.016

@article{2afc958b042d4b349446f15be91dd09a,

title = "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",

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.",

author = "Filomena Altieri and Turco, \{Elisa Maria\} and Ersilia Vinci and Barbara Torres and Daniela Ferrari and \{De Jaco\}, Antonella and Gianluigi Mazzoccoli and Giuseppe Lamorte and Annamaria Nardone and \{Della Monica\}, Matteo and Laura Bernardini and Vescovi, \{Angelo Luigi\} and Jessica Rosati",

note = "Publisher Copyright: {\textcopyright} 2018 The Authors",

year = "2018",

month = apr,

doi = "10.1016/j.scr.2018.02.016",

language = "English (US)",

volume = "28",

pages = "153--156",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier B.V.",

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T1 - 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

AU - Altieri, Filomena

AU - Turco, Elisa Maria

AU - Vinci, Ersilia

AU - Torres, Barbara

AU - Ferrari, Daniela

AU - De Jaco, Antonella

AU - Mazzoccoli, Gianluigi

AU - Lamorte, Giuseppe

AU - Nardone, Annamaria

AU - Della Monica, Matteo

AU - Bernardini, Laura

AU - Vescovi, Angelo Luigi

AU - Rosati, Jessica

PY - 2018/4

Y1 - 2018/4

N2 - 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.

AB - 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.

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DO - 10.1016/j.scr.2018.02.016

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AN - SCOPUS:85042396083

SN - 1873-5061

VL - 28

SP - 153

EP - 156

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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

Abstract

ASJC Scopus subject areas

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