Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene-Reference-Cited by-同舟云学术

Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene

Published:2021-07 Issue: Volume:54 Page:102430
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Ali Eltahir,Ferraro Rosalba Monica,Guglielmi Adele,Lanzi Gaetana,Masneri Stefania,Piovani Giovanna,Mazzoldi Elena Laura,Pollara Lidia,Valente Enza Maria,Accorsi Patrizia,Giordano Lucio,Giliani Silvia Clara

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference5 articles.

1. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin;Coene;Am. J. Hum. Genet.,2009

2. Doherty, D. (2009, September). Joubert syndrome: insights into brain development, cilium biology, and complex disease. In Seminars in pediatric neurology (Vol. 16, No. 3, pp. 143-154). WB Saunders.

3. Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation;Joubert;Neurology,1969

4. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa;Noor;Am. J. Hum. Genet.,2008

5. Genotypes and phenotypes of Joubert syndrome and related disorders;Valente;Eur. J. Med. Genet.,2008

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1. Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro;Cell and Tissue Research;2024-03-19

2. Patient-derived cellular models of primary ciliopathies;Journal of Medical Genetics;2022-02-19