Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Jessica Rosati; Filomena Altieri; Silvia Tardivo; Elisa Maria Turco; Marina Goldoni; Iolanda Spasari; Daniela Ferrari; Laura Bernardini; Giuseppe Lamorte; Enza Maria Valente; Angelo Luigi Vescovi

doi:10.1016/j.scr.2018.01.012

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi

Academic Institute

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

3 Scopus citations

Abstract

Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin.

Original language	English (US)
Pages (from-to)	74-77
Number of pages	4
Journal	Stem Cell Research
Volume	27
DOIs	https://doi.org/10.1016/j.scr.2018.01.012
State	Published - Mar 2018

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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@article{33b933685fe346478eed4036f556d9b4,

title = "Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)",

abstract = "Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin.",

author = "Jessica Rosati and Filomena Altieri and Silvia Tardivo and Turco, {Elisa Maria} and Marina Goldoni and Iolanda Spasari and Daniela Ferrari and Laura Bernardini and Giuseppe Lamorte and Valente, {Enza Maria} and Vescovi, {Angelo Luigi}",

note = "Funding Information: This work was supported by: Italian Ministry of Health , Ricerca corrente 2016 and 2017 to JR, ERC Starting Grant StG 260888 and Ricerca Finalizzata grant NET-2013-02356160 to EMV. Publisher Copyright: {\textcopyright} 2018",

year = "2018",

month = mar,

doi = "10.1016/j.scr.2018.01.012",

language = "English (US)",

volume = "27",

pages = "74--77",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

TY - JOUR

T1 - Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome

T2 - CSSi001-A (2850)

AU - Rosati, Jessica

AU - Altieri, Filomena

AU - Tardivo, Silvia

AU - Turco, Elisa Maria

AU - Goldoni, Marina

AU - Spasari, Iolanda

AU - Ferrari, Daniela

AU - Bernardini, Laura

AU - Lamorte, Giuseppe

AU - Valente, Enza Maria

AU - Vescovi, Angelo Luigi

N1 - Funding Information: This work was supported by: Italian Ministry of Health , Ricerca corrente 2016 and 2017 to JR, ERC Starting Grant StG 260888 and Ricerca Finalizzata grant NET-2013-02356160 to EMV. Publisher Copyright: © 2018

PY - 2018/3

Y1 - 2018/3

N2 - Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin.

AB - Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin.

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DO - 10.1016/j.scr.2018.01.012

M3 - Article

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AN - SCOPUS:85040348694

SN - 1873-5061

VL - 27

SP - 74

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JO - Stem Cell Research

JF - Stem Cell Research

ER -

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Abstract

ASJC Scopus subject areas

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