Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene

Stem Cell Research ◽

10.1016/j.scr.2019.101559 ◽

2019 ◽

Vol 40 ◽

pp. 101559

Author(s):

Yanyan Ma ◽

Haiyan Zhang ◽

Xiaomeng Yang ◽

Yue Li ◽

Jingyun Guan ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Nemaline Myopathy ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Induced Pluripotent

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Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

Stem Cell Research ◽

10.1016/j.scr.2021.102356 ◽

2021 ◽

pp. 102356

Author(s):

Angela D'Anzi ◽

Filomena Altieri ◽

Elisa Perciballi ◽

Daniela Ferrari ◽

Barbara Torres ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Induced Pluripotent

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Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene

Stem Cell Research ◽

10.1016/j.scr.2019.101565 ◽

2019 ◽

Vol 40 ◽

pp. 101565

Author(s):

Haiyan Zhang ◽

Yanyan Ma ◽

Beibei Yan ◽

Xiaomeng Yang ◽

Yue Li ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Kit Gene ◽

Induced Pluripotent

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Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene

Stem Cell Research ◽

10.1016/j.scr.2020.101748 ◽

2020 ◽

Vol 44 ◽

pp. 101748

Author(s):

Mbarka Bchetnia ◽

Laurie Martineau ◽

Véronique Racine ◽

Julie Powell ◽

Catherine McCuaig ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Epidermolysis Bullosa ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Epidermolysis Bullosa Simplex ◽

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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Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102162 ◽

2021 ◽

Vol 51 ◽

pp. 102162

Author(s):

Bin Wang ◽

Lu Yang ◽

Yue Li ◽

Min Gao ◽

Haiyan Zhang ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Alagille Syndrome ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Induced Pluripotent

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Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B

Stem Cell Research ◽

10.1016/j.scr.2016.06.004 ◽

2016 ◽

Vol 17 (1) ◽

pp. 148-150 ◽

Author(s):

Yu Zhang ◽

Benjamin Schmid ◽

Troels T. Nielsen ◽

Jørgen E. Nielsen ◽

Christian Clausen ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Site Specific ◽

Induced Pluripotent ◽

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Derivation of an induced pluripotent stem cell line (PUMCHi003-A) from a patient with pulmonary arterial hypertension carrying heterozygous mutation in PTGIS gene

Stem Cell Research ◽

10.1016/j.scr.2020.101875 ◽

2020 ◽

Vol 46 ◽

pp. 101875 ◽

Author(s):

Si-Jin Zhang ◽

Tian-Yu Lian ◽

Xi-Jie Zhu ◽

Dan Lu ◽

Xi-Qi Xu ◽

...

Keyword(s):

Stem Cell ◽

Pulmonary Arterial Hypertension ◽

Arterial Hypertension ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Pulmonary Arterial ◽

Induced Pluripotent

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Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C>G (p.L266V) in MAPT

Stem Cell Research ◽

10.1016/j.scr.2022.102654 ◽

2022 ◽

pp. 102654

Author(s):

Huimin Cai ◽

Yana Pang ◽

Longfei Jia

Keyword(s):

Stem Cell ◽

Cell Line ◽

Frontotemporal Dementia ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Induced Pluripotent

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Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene

Stem Cell Research ◽

10.1016/j.scr.2018.01.006 ◽

2018 ◽

Vol 27 ◽

pp. 90-94 ◽

Author(s):

Ana Marote ◽

Yuriy Pomeshchik ◽

Stefano Goldwurm ◽

Anna Collin ◽

Nuno J. Lamas ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Induced Pluripotent Stem Cell ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Induced Pluripotent

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Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G>A in the ACVR1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102424 ◽

2021 ◽

pp. 102424

Author(s):

Xiuli Huang ◽

Amanda Roeder ◽

Rong Li ◽

Jeanette Beers ◽

Chengyu Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Fibrodysplasia Ossificans Progressiva ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Induced Pluripotent

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