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

被引：2
|
作者：
Ali, Eltahir [1 ]
Ferraro, Rosalba Monica [1 ]
Guglielmi, Adele [1 ,6 ]
Lanzi, Gaetana [1 ]
Masneri, Stefania [1 ]
Piovani, Giovanna [2 ]
Mazzoldi, Elena Laura [1 ]
Pollara, Lidia [3 ]
Valente, Enza Maria [3 ,4 ]
Accorsi, Patrizia [5 ]
Giordano, Lucio [5 ]
Giliani, Silvia Clara [1 ]
机构：
[1] Univ Brescia, Angelo Nocivelli Inst Mol Med, Dept Mol & Translat Med, Brescia, Italy
[2] Univ Brescia, Dept Mol & Translat Med, Biol & Genet Div, Brescia, Italy
[3] Univ Pavia, Dept Mol Med, Pavia, Italy
[4] IRCCS Mondino Fdn, Pavia, Italy
[5] ASST Spedali Civili Brescia, Unit Child Neurol & Psychiat, Brescia, Italy
[6] Univ Calif Davis, Med Ctr, Inst & Dept Pathol & Lab Med, Med Invest Neurodev Disorders MIND, Sacramento, CA 95817 USA
来源：
STEM CELL RESEARCH | 2021年 / 54卷
关键词：
Joubert syndrome; CC2D2A; iPSCs; Stemness; Pluripotency; Ciliogenesis;
D O I：
10.1016/j.scr.2021.102430
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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-derived neuronal cell lines to uncover the molecular and cellular mechanisms underlying the pathogenesis of JS and to develop therapeutic interventions for treatment of JS.
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页数：5
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