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Stem Cell Res. 2018 Mar;27:74-77. doi: 10.1016/j.scr.2018.01.012. Epub 2018 Jan 9.

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

Author information

1
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy. Electronic address: j.rosati@css-mendel.it.
2
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
3
Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy.
4
IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
5
Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy.
6
Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Molecular Medicine, University of Pavia, Via Forlanini 14, Pavia 27100, Italy.
7
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy; IRCCS Casa Sollievo della Sofferenza, viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.

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.

PMID:
29334628
DOI:
10.1016/j.scr.2018.01.012
[Indexed for MEDLINE]
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