Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11

被引：2

作者：

Zhu, Wei ^{[1
]}

Cheng, Yu-Shan ^{[1
]}

Xu, Miao ^{[1
]}

Farkhondeh, Atena ^{[1
]}

Beers, Jeanette ^{[2
]}

Zou, Jizhong ^{[2
]}

Liu, Chengyu ^{[3
]}

Baumgaertel, Karsten ^{[4
]}

Rodems, Steven ^{[4
]}

Zheng, Wei ^{[1
]}

机构：

[1] NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA

[2] NIH, iPSC Core, NHLBI, Bldg 10, Bethesda, MD 20892 USA

[3] NIH, Transgen Core, NHLBI, Bldg 10, Bethesda, MD 20892 USA

[4] Travere Therapeut, San Diego, CA USA

来源：

STEM CELL RESEARCH | 2021年 / 53卷

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.scr.2021.102366

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder caused by defects in the Notch signaling pathway, including the mutation in JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 3-month-old patient with heterozygous mutation at JAG1 splicing site (Chr20: 10,629,709C>A) before exon 11. This iPSC model offers a useful resource for disease modeling to study the disease pathophysiology and to develop therapeutics for treatment of ALGS.

引用

页数：4

共 32 条

[1] Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T>A) mutation in JAGGED-1
Brooks, Brianna M.
Pradhan, Manisha
Cheng, Yu-Shan
Gorshkov, Kirill
Farkhondeh, Atena
Chen, Catherine Z.
Beers, Jeanette
Liu, Chengyu
Baumgaertel, Karsten
Rodems, Steven
Zheng, Wei
STEM CELL RESEARCH, 2021, 54
[2] Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene
Hatim, Omer
Xu, Miao
Pavlinov, Ivan
Linask, Kaari
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Rodems, Steven
Baumgartel, Karsten
Gilbert, Melissa A.
Spinner, Nancy B.
Chen, Catherine
Zheng, Wei
STEM CELL RESEARCH, 2024, 77
[3] Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene
Wang, Bin
Yang, Lu
Li, Yue
Gao, Min
Zhang, Haiyan
Yang, Xiaomeng
Guan, Jingyun
Liu, Yi
Gai, Zhongtao
STEM CELL RESEARCH, 2021, 51
[4] Lab resource: Stem Cell Line Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T > C .
Rovina, Davide
Castiglioni, Elisa
Niro, Francesco
Farini, Andrea
Belicchi, Marzia
Di Fede, Elisabetta
Gervasini, Cristina
Paganini, Stefania
Di Segni, Marina
Torrente, Yvan
Santoro, Rosaria
Pompilio, Giulio
Gowran, Aoife
STEM CELL RESEARCH, 2020, 45
[5] Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene
Hatim, Omer
Pavlinov, Ivan
Xu, Miao
Linask, Kaari
Beers, Jeanette
Liu, Chengyu
Baumgartel, Karsten
Gilbert, Melissa
Spinner, Nancy
Chen, Catherine
Zou, Jizhong
Zheng, Wei
STEM CELL RESEARCH, 2023, 73
[6] Generation of an induced pluripotent stem cell line (PUMCHi006-A) derived from a patient with pulmonary arterial hypertension carrying heterozygous c.1339 G > A mutation in PTGIS gene
Zhu, Yong-Jian
Zhang, Si-Jin
Wu, Xiao-Han
Lian, Tian-Yu
He, Yang-Zhige
Zhang, Ze-Jian
Lu, Dan
Sun, Kai
Wang, Hui-Fang
Jing, Zhi-Cheng
STEM CELL RESEARCH, 2020, 49
[7] Generation of an induced pluripotent stem cell line (FDCHI007-A) derived from a patient with developmental and epileptic encephalopathy Type 31 carrying heterozygous c.545C > A mutation in DNM1 gene
Xu, Yan
Wang, Xinhua
Qiu, Tian
Wang, Ji
Wang, Yi
Wu, Bingbing
Zhou, Yuanfeng
STEM CELL RESEARCH, 2022, 60
[8] Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G > T mutation in the 5′-UTR of the ANKRD26 gene
Tan, Chengning
Dai, Limeng
Yang, Wuchen
Li, Fengjie
Wang, Li
Xiao, Yanni
Wang, Xiaojie
Zhang, Yichi
Wang, Yali
Zeng, Cheng
Xiang, Zheng
Zhang, Xiaomei
Zhang, Weiwei
Ran, Qian
Chen, Maoshan
Li, Zhongjun
Chen, Li
STEM CELL RESEARCH, 2020, 48
[9] Generation of an induced pluripotent stem cell line XJHi001-A from a fibronectin glomerulopathy patient carrying a heterozygous NM_212482.2 (C.5888-1G> C) mutation in the FN1 gene
She, Lecheng
Li, Xiayin
Bai, Ming
STEM CELL RESEARCH, 2023, 72
[10] Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene
Qin, Zhiping
Sun, Liqiang
Sun, Xue
Gao, Xinxuan
Su, Hang
STEM CELL RESEARCH, 2021, 51

← 1 2 3 4 →

Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C&gt;A) before exon 11

Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11