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.

引用

页数：5

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