Human induced pluripotent stem cell modeling of neurofibromatosis type 1

Mapping Intimacies ◽

10.1016/b978-0-323-85765-9.00008-4 ◽

2022 ◽

pp. 1-30

Author(s):

Sarah V. Schurr ◽

Kelly A. Hartigan ◽

David H. Gutmann

Keyword(s):

Stem Cell ◽

Neurofibromatosis Type 1 ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Neurofibromatosis Type ◽

Cell Modeling ◽

Induced Pluripotent

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Erratum to “Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy” by Lee JH, et al. (Yonsei Med J 2020; 61(9): 816–825.)

Yonsei Medical Journal ◽

10.3349/ymj.2020.61.11.989 ◽

2020 ◽

Vol 61 (11) ◽

pp. 989

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Autosomal Recessive ◽

Induced Pluripotent Stem Cell ◽

Cell Modeling ◽

Autosomal Recessive Bestrophinopathy ◽

Induced Pluripotent ◽

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Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation

Stem Cell Research ◽

10.1016/j.scr.2019.101650 ◽

2019 ◽

Vol 41 ◽

pp. 101650 ◽

Author(s):

Ning Ge ◽

Min Liu ◽

Yicheng Ding ◽

Janusz Krawczyk ◽

Veronica McInerney ◽

...

Keyword(s):

Stem Cell ◽

Long Qt Syndrome ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Syndrome Type ◽

Long Qt ◽

Qt Syndrome ◽

Induced Pluripotent

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Establishment of three human induced pluripotent stem cell lines from a type 1 diabetic family harboring sequence variants associated with autoimmunity

Stem Cell Research ◽

10.1016/j.scr.2020.102029 ◽

2020 ◽

Vol 49 ◽

pp. 102029

Author(s):

Edward Po-Fan Chu ◽

Chia-Hung Lin ◽

Candy Hsin-Hua Cho ◽

I-Fen Cheng ◽

Tzu-Chien Kuo ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Sequence Variants ◽

Stem Cell Lines ◽

Induced Pluripotent

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Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene

Stem Cell Research ◽

10.1016/j.scr.2020.101925 ◽

2020 ◽

Vol 48 ◽

pp. 101925

Author(s):

Nidaa A. Ababneh ◽

Ban Al-Kurdi ◽

Dema Ali ◽

Duaa Abuarqoub ◽

Raghda Barham ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Homozygous Mutation ◽

Ipsc Line ◽

Oculomotor Apraxia ◽

Induced Pluripotent ◽

Ataxia With Oculomotor Apraxia

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Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia

Molecular Psychiatry ◽

10.1038/s41380-017-0004-2 ◽

2018 ◽

Vol 24 (5) ◽

pp. 757-771 ◽

Author(s):

Femke M. de Vrij ◽

◽

Christian G. Bouwkamp ◽

Nilhan Gunhanlar ◽

Guy Shpak ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Progenitor Cell ◽

Induced Pluripotent Stem Cell ◽

Oligodendrocyte Progenitor Cell ◽

Oligodendrocyte Progenitor ◽

Cell Dysfunction ◽

Cell Modeling ◽

Induced Pluripotent

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Drug Testing in Human‐Induced Pluripotent Stem Cell–Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1

Clinical Pharmacology & Therapeutics ◽

10.1002/cpt.1449 ◽

2019 ◽

Vol 106 (3) ◽

pp. 642-651 ◽

Author(s):

Zhihan Zhao ◽

Xin Li ◽

Ibrahim El‐Battrawy ◽

Huan Lan ◽

Rujia Zhong ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Drug Testing ◽

Induced Pluripotent Stem Cell ◽

Syndrome Type ◽

Short Qt Syndrome ◽

Qt Syndrome ◽

Induced Pluripotent

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Ionic Mechanisms of Disopyramide Prolonging Action Potential Duration in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1

Frontiers in Pharmacology ◽

10.3389/fphar.2020.554422 ◽

2020 ◽

Vol 11 ◽

Author(s):

Huan Lan ◽

Qiang Xu ◽

Ibrahim El-Battrawy ◽

Rujia Zhong ◽

Xin Li ◽

...

Keyword(s):

Stem Cell ◽

Action Potential Duration ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Syndrome Type ◽

Short Qt Syndrome ◽

Ionic Mechanisms ◽

Qt Syndrome ◽

Induced Pluripotent

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Induced pluripotent stem cell modeling of malignant hematopoiesis

Experimental Hematology ◽

10.1016/j.exphem.2019.01.002 ◽

2019 ◽

Vol 71 ◽

pp. 68-76 ◽

Author(s):

Mark P. Chao ◽

Ravindra Majeti

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Cell Modeling ◽

Induced Pluripotent

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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene

Stem Cell Research ◽

10.1016/j.scr.2019.101416 ◽

2019 ◽

Vol 36 ◽

pp. 101416 ◽

Author(s):

Manuela Mura ◽

Federica Pisano ◽

Manuela Stefanello ◽

Monia Ginevrino ◽

Marina Boni ◽

...

Keyword(s):

Stem Cell ◽

Long Qt Syndrome ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Syndrome Type ◽

Common Variants ◽

Long Qt ◽

Qt Syndrome ◽

Induced Pluripotent

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Induced Pluripotent Stem Cell Modeling of Gaucher’s Disease: What Have We Learned?

International Journal of Molecular Sciences ◽

10.3390/ijms18040888 ◽

2017 ◽

Vol 18 (4) ◽

pp. 888 ◽

Author(s):

Dino Santos ◽

Gustavo Tiscornia

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Gaucher's Disease ◽

Gaucher’S Disease ◽

Cell Modeling ◽

Induced Pluripotent

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