scholarly journals Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1

2021 ◽  
pp. 102444
Author(s):  
Cathelijn E.M. Aarts ◽  
Ellie Karampini ◽  
Tatjana Wüst ◽  
Steven Webbers ◽  
Eszter Varga ◽  
...  
Keyword(s):  
Ipsc Line ◽  
Compound Mutation ◽  
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 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

scholarly journals Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation

2018 ◽  
Vol 28 ◽  
pp. 16-20 ◽  
Author(s):  
Héctor Fernández-Susavila ◽  
Cristina Mora ◽  
Marta Aramburu-Núñez ◽  
Rita Quintas-Rey ◽  
Susana Arias ◽  
...  
Keyword(s):  
Blood Cells ◽  
Ipsc Line ◽  
Notch3 Mutation ◽  
Human Ipsc

scholarly journals Corrigendum to “Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene” [Stem Cell Research, Volume 38, July 2019, 101469]

2019 ◽  
Vol 39 ◽  
pp. 101513
Author(s):  
Arístides López-Márquez ◽  
Esmeralda Alonso-Barroso ◽  
Gema Cerro-Tello ◽  
Irene Bravo-Alonso ◽  
Laura Arribas-Carreira ◽  
...  
Keyword(s):  
Stem Cell ◽  
Stem Cell Research ◽  
Propionic Acidemia ◽  
Ipsc Line ◽  
Human Ipsc

scholarly journals Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

2019 ◽  
Vol 38 ◽  
pp. 101469 ◽  
Author(s):  
Arístides López-Márquez ◽  
Esmeralda Alonso-Barroso ◽  
Gema Cerro-Tello ◽  
Irene Bravo-Alonso ◽  
Laura Arribas-Carreira ◽  
...  
Keyword(s):  
Propionic Acidemia ◽  
Ipsc Line ◽  
Human Ipsc

scholarly journals Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

2019 ◽  
Vol 39 ◽  
pp. 101503 ◽  
Author(s):  
Laura Arribas-Carreira ◽  
Irene Bravo-Alonso ◽  
Arístides López-Márquez ◽  
Esmeralda Alonso-Barroso ◽  
Álvaro Briso-Montiano ◽  
...  
Keyword(s):  
Ipsc Line ◽  
Gldc Gene ◽  
Nonketotic Hyperglycinemia ◽  
Human Ipsc

scholarly journals Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene

2019 ◽  
Vol 36 ◽  
pp. 101426 ◽  
Author(s):  
Berta de la Cerda ◽  
Andrea Díez-Lloret ◽  
Beatriz Ponte ◽  
Laura Vallés-Saiz ◽  
Sofia M. Calado ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Ipsc Line ◽  
Human Ipsc

scholarly journals Generation and characterization of the human iPSC line PBMC1-iPS4F1 from adult peripheral blood mononuclear cells

2015 ◽  
Vol 15 (3) ◽  
pp. 614-617 ◽  
Author(s):  
Rosa Montes ◽  
Tamara Romero ◽  
Sonia Cabrera ◽  
Veronica Ayllon ◽  
Jose A. Lopez-Escamez ◽  
...  
Keyword(s):  
Peripheral Blood Mononuclear Cells ◽  
Peripheral Blood ◽  
Mononuclear Cells ◽  
Ipsc Line ◽  
Peripheral Blood Mononuclear ◽  
Blood Mononuclear Cells ◽  
Human Ipsc ◽  
Adult Peripheral Blood
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