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Article

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

Stem cell research - 1 Mar 2018

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29334628
DOI: 10.1016/j.scr.2018.01.012

Genes

AHI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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