Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

Filomena Altieri, Angela D'Anzi, Francesco Martello, Silvia Tardivo, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Gianluigi Mazzoccoli, Enza Maria Valente, Angelo Luigi Vescovi, Jessica Rosati

Research output: Contribution to journalArticle

Abstract

Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a homozygous missense mutation (c.2168G > A) in AHI1, the first gene to be associated with JS, were produced using a virus-free protocol.

Original languageEnglish
Article number101480
JournalStem Cell Research
Volume38
DOIs
Publication statusPublished - Jul 1 2019

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Induced Pluripotent Stem Cells
Basal Bodies
Cilia
Missense Mutation
Brain Stem
Viruses
Mutation
Genes
Proteins
Joubert syndrome 1
Ciliopathies
Neurodevelopmental Disorders

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome. / Altieri, Filomena; D'Anzi, Angela; Martello, Francesco; Tardivo, Silvia; Spasari, Iolanda; Ferrari, Daniela; Bernardini, Laura; Lamorte, Giuseppe; Mazzoccoli, Gianluigi; Valente, Enza Maria; Vescovi, Angelo Luigi; Rosati, Jessica.

In: Stem Cell Research, Vol. 38, 101480, 01.07.2019.

Research output: Contribution to journalArticle

Altieri, Filomena ; D'Anzi, Angela ; Martello, Francesco ; Tardivo, Silvia ; Spasari, Iolanda ; Ferrari, Daniela ; Bernardini, Laura ; Lamorte, Giuseppe ; Mazzoccoli, Gianluigi ; Valente, Enza Maria ; Vescovi, Angelo Luigi ; Rosati, Jessica. / Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome. In: Stem Cell Research. 2019 ; Vol. 38.
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