scholarly journals Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His

2021 ◽  
pp. 102508
Author(s):  
Jaewon Oh ◽  
Sun-Ho Lee ◽  
Jungyoon Choi ◽  
Jong Rak Choi ◽  
Sangwoo Kim ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Genetic Variant ◽  
Ipsc Line ◽  
Human Ipsc

scholarly journals Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy

2021 ◽  
pp. 102394
Author(s):  
Mariana A Argenziano ◽  
Mariana Burgos Angulo ◽  
Maliheh Najari Beidokhti ◽  
Jiajia Yang ◽  
Alexander C. Bertalovitz ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Ipsc Line ◽  
Human Ipsc

scholarly journals Establishment of MHHi001-A-5, a GCaMP6f and RedStar dual reporter human iPSC line for in vitro and in vivo characterization and in situ tracing of iPSC derivatives

2021 ◽  
Vol 52 ◽  
pp. 102206
Author(s):  
Alexandra Haase ◽  
Tim Kohrn ◽  
Veronika Fricke ◽  
Maria Elena Ricci Signorini ◽  
Merlin Witte ◽  
...  
Keyword(s):  
Ipsc Line ◽  
Dual Reporter ◽  
In Vivo Characterization ◽  
Human Ipsc

scholarly journals Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient

2021 ◽  
pp. 102443
Author(s):  
Cathelijn E.M. Aarts ◽  
Eszter Varga ◽  
Steven Webbers ◽  
Judy Geissler ◽  
Marieke von Lindern ◽  
...  
Keyword(s):  
Syndrome Patient ◽  
Ipsc Line ◽  
Gray Platelet Syndrome ◽  
Human Ipsc

scholarly journals Generation of integration free human iPSC line SORMi002-A from neonatal foreskin fibroblasts

2019 ◽  
Vol 40 ◽  
pp. 101534
Author(s):  
Akshatha Shivaraj ◽  
Shagufta Parveen
Keyword(s):  
Ipsc Line ◽  
Human Ipsc

scholarly journals Generation of a human iPSC line ZZUNEUi015-A from a patient with hypertrophic cardiomyopathy caused by mutation in ALPK3

2021 ◽  
Vol 52 ◽  
pp. 102247
Author(s):  
Xiaoxu Tian ◽  
Wanrong Fu ◽  
Guangli Guo ◽  
Shujian Huang ◽  
Yiming Dong ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Ipsc Line ◽  
Human Ipsc

Dilated cardiomyopathy associated with a mutation in the dispatched RND transporter family member 1 gene

2021 ◽  
pp. 1-3
Author(s):  
Diana M. Torpoco Rivera ◽  
Mina Hafzalah ◽  
Daniel J. Pomerantz ◽  
Richard U. Garcia
Keyword(s):  
Dilated Cardiomyopathy ◽  
Family Member ◽  
Genetic Variant ◽  
Genetic Component ◽  
Female Infant ◽  
First Report ◽  
Common Presentation ◽  
Transporter Family ◽  
Rnd Transporter

Abstract Dilated cardiomyopathy is the most common presentation of cardiomyopathy in children with 20–35% of patients having an identified genetic component. There are more than 30 genes implicated in the pathogenesis of dilated cardiomyopathy. We present the first report of a female infant with dilated cardiomyopathy with a genetic variant in the dispatched RND transporter family member 1 gene.

scholarly journals Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2

2018 ◽  
Vol 33 ◽  
pp. 247-250 ◽  
Author(s):  
Carla Sanjurjo-Soriano ◽  
Nejla Erkilic ◽  
Gaël Manes ◽  
Gregor Dubois ◽  
Christian P. Hamel ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Ipsc Line ◽  
Human Ipsc ◽  
Usher Syndrome Type

scholarly journals Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation

2018 ◽  
Vol 33 ◽  
pp. 146-150 ◽  
Author(s):  
Daniele Pollini ◽  
Rosa Loffredo ◽  
Marina Cardano ◽  
Luciano Conti ◽  
Serena Lattante ◽  
...  
Keyword(s):  
Ipsc Line ◽  
Human Ipsc
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