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

共 50 条

[1] Novel CC2D2A compound heterozygous mutations cause Joubert syndrome
Xiao, Daimin
Lv, Chunli
Zhang, Zhimin
Wu, Mingsong
Zheng, Xiang
Yang, Lei
Li, Xueying
Wu, Guan
Chen, Jindong
MOLECULAR MEDICINE REPORTS, 2017, 15 (01) : 305 - 308
[2] Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene
Ali, Eltahir
Ferraro, Rosalba Monica
Lanzi, Gaetana
Masneri, Stefania
Piovani, Giovanna
Mazzoldi, Elena Laura
Serpieri, Valentina
Valente, Enza Maria
Giordano, Lucio
Giliani, Silvia Clara
STEM CELL RESEARCH, 2020, 49
[3] Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene
Cattelani, Cecilia
Battistella, Ingrid
Di Leva, Francesca
Fioravanti, Giulia
Benedicenti, Francesco
Stanzial, Franco
Schwienbacher, Christine
Fanelli, Francesca
Pramstaller, Peter P.
Hicks, Andrew A.
Conti, Luciano
Corti, Corrado
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (21)
[4] Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene
McLenachan, Samuel
Wong, Elaine Y. M.
Zhang, Xiao
Leith, Fiona
Moon, Sang Yoon
Zhang, Dan
Chen, Shang-Chih
Thompson, Jennifer A.
McLaren, Terri
Lamey, Tina
De Roach, John N.
Atlas, Marcus D.
Dilley, Rodney J.
Chen, Fred K.
STEM CELL RESEARCH, 2019, 36
[5] Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome
Pinto, Rute Luisa Cabrita
Viaggi, Silvia
Canale, Edoardo
Popple, Marina Martinez
Capra, Valeria
Conteduca, Giuseppina
Testa, Barbara
Coviello, Domenico
Covone, Angela Elvira
GENES, 2023, 14 (04)
[6] Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene
Wang, Yue
Fang, Yibing
Wang, Yabo
Xia, Shutao
Zhang, Donghui
An, Qi
Li, Yifei
Luo, Shuhua
STEM CELL RESEARCH, 2023, 66
[7] Establishment of induced pluripotent stem cell lines from a family of an ARVC patient receiving heart transplantation in infant age carrying compound heterozygous mutations in DSP gene
Xia, Shutao
Wang, Xvdong
Yue, Peng
Li, Yifei
Zhang, Donghui
STEM CELL RESEARCH, 2020, 48
[8] Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations
Schuster, Jens
Fatima, Ambrin
Sobol, Maria
Norradin, Feria Hikmet
Laan, Loora
Dahl, Niklas
STEM CELL RESEARCH, 2019, 39
[9] Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene
Alsalloum, Almaqdad
Shefer, Kristina
Bogdanov, Pavel
Mingaleva, Natalia
Kim, Alexander
Feoktistova, Sofya
Mityaeva, Olga
Volchkov, Pavel
STEM CELL RESEARCH, 2024, 80
[10] Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene
Hernandez-Ainsa, Carmen
Nascimento, Andres
Jou, Cristina
Artuch, Rafael
Montoya, Julio
Ruiz-Pesini, Eduardo
Emperador, Sonia
STEM CELL RESEARCH, 2022, 59

← 1 2 3 4 5 →