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

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

We have developed Joubert syndrome (JS)-derived induced pluripotent stem cell (iPSC) lines from dermal fibroblasts biopsied from a female patient harbouring novel compound heterozygous mutations in CC2D2A gene. The newly established iPSC lines provide tremendous promises for development of JS-derive...

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Bibliographic Details
Main Authors: Eltahir Ali, Rosalba Monica Ferraro, Adele Guglielmi, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Lidia Pollara, Enza Maria Valente, Patrizia Accorsi, Lucio Giordano, Silvia Clara Giliani
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:Stem Cell Research
Subjects:
Joubert syndrome
CC2D2A
iPSCs
Stemness
Pluripotency
Ciliogenesis
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121002774

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http://www.sciencedirect.com/science/article/pii/S1873506121002774

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