Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Research ◽

10.1016/j.scr.2020.102089 ◽

2020 ◽

Vol 49 ◽

pp. 102089

Author(s):

Xiaoli Ji ◽

Qingyuan Tang ◽

Chuanqing Tang ◽

Ziyan Wu ◽

Ling Ma ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Syndrome Patient ◽

Ipsc Line ◽

Gene Correction ◽

Stem Cell Line ◽

Alstrom Syndrome ◽

Induced Pluripotent

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Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line

Stem Cell Research ◽

10.1016/j.scr.2021.102305 ◽

2021 ◽

Vol 53 ◽

pp. 102305

Author(s):

Ling Ma ◽

Ziyan Wu ◽

Qingyuan Tang ◽

Xiaoli Ji ◽

Yuting Mei ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Global Development ◽

Ipsc Line ◽

Gene Correction ◽

Stem Cell Line ◽

Development Delay ◽

Induced Pluripotent

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Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102228 ◽

2021 ◽

Vol 52 ◽

pp. 102228

Author(s):

Weiping Ji ◽

Dexuan Wang ◽

Congde Chen ◽

Huihui Chen ◽

Yinjuan Ding ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Bartter Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Slc12a1 Gene ◽

Induced Pluripotent

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Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A

Stem Cell Research ◽

10.1016/j.scr.2019.101535 ◽

2019 ◽

Vol 40 ◽

pp. 101535

Author(s):

Hao Liu ◽

Yatping Tsui ◽

Jiaxian Wang ◽

Chen Su ◽

Rui Zheng ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Syndrome Patient ◽

Stem Cell Line ◽

Induced Pluripotent ◽

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Generation of a human induced pluripotent stem cell line (NCCDFWi001-A) from a Marfan syndrome patient carrying two FBN1 variants (c.2613A > C and c.684_736 + 4del)

Stem Cell Research ◽

10.1016/j.scr.2019.101690 ◽

2020 ◽

Vol 42 ◽

pp. 101690 ◽

Author(s):

Baihui Ma ◽

Mingyao Luo ◽

Hang Yang ◽

Tianjiao Li ◽

Weiwei Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Marfan Syndrome ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Syndrome Patient ◽

Stem Cell Line ◽

Induced Pluripotent

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Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

Stem Cell Research ◽

10.1016/j.scr.2019.101451 ◽

2019 ◽

Vol 37 ◽

pp. 101451 ◽

Author(s):

Junjie Hong ◽

Miao Xu ◽

Rong Li ◽

Yu-Shan Cheng ◽

Jennifer Kouznetsova ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Hunter Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Induced Pluripotent

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Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)

Stem Cell Research ◽

10.1016/j.scr.2021.102294 ◽

2021 ◽

pp. 102294

Author(s):

Rengchen Qian ◽

Long Wang ◽

Huihui Chen ◽

Yinjuan Ding ◽

Dexuan Wang ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Gene Mutation ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Lowe Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Ocrl Gene ◽

Induced Pluripotent

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Generation of human induced pluripotent stem cell line FDCHDPi001-A from a Chinese Han Tourette’s syndrome patient

Stem Cell Research ◽

10.1016/j.scr.2021.102227 ◽

2021 ◽

Vol 52 ◽

pp. 102227

Author(s):

Aihua Yuan ◽

Ran Tao ◽

Shunying Yu ◽

Naihe Jing ◽

Jinhua Sun

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Tourette's Syndrome ◽

Tourette’S Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Chinese Han ◽

Induced Pluripotent

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Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup)

Stem Cell Research ◽

10.1016/j.scr.2021.102437 ◽

2021 ◽

pp. 102437

Author(s):

Zeya Zhang ◽

Nuo Si ◽

Bo Pan ◽

Haiyue Jiang

Keyword(s):

Stem Cell ◽

Cell Line ◽

Gene Mutation ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Treacher Collins Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Induced Pluripotent

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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

Stem Cell Research ◽

10.1016/j.scr.2021.102163 ◽

2021 ◽

Vol 51 ◽

pp. 102163

Author(s):

Zhiping Qin ◽

Liqiang Sun ◽

Xue Sun ◽

Xinxuan Gao ◽

Hang Su

Keyword(s):

Stem Cell ◽

Cell Line ◽

Marfan Syndrome ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Syndrome Patient ◽

Stem Cell Line ◽

Fbn1 Gene ◽

Induced Pluripotent

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Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation

Stem Cell Research ◽

10.1016/j.scr.2021.102392 ◽

2021 ◽

pp. 102392

Author(s):

Daryeon Son ◽

Jie Zheng ◽

In Yong Kim ◽

Seungkwon You

Keyword(s):

Mitochondrial Dna ◽

Stem Cell ◽

Cell Line ◽

Cytochrome B ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Leigh Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Induced Pluripotent

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