scholarly journals Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations

2019 ◽  
Vol 35 ◽  
pp. 101385
Author(s):  
Marina Riera ◽  
Achchhe Patel ◽  
Borja Corcostegui ◽  
Stanley Chang ◽  
Janet R. Sparrow ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Ipsc Line ◽  
Retinitis Pigmentosa Patient

scholarly journals Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

2019 ◽  
Vol 38 ◽  
pp. 101455 ◽  
Author(s):  
Arantxa Bolinches-Amorós ◽  
Marian León ◽  
Verónica del Buey Furió ◽  
Gemma Marfany ◽  
Roser Gonzàlez-Duarte ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Homozygous Mutation ◽  
Ipsc Line ◽  
Retinitis Pigmentosa Patient ◽  
Healthy Sibling

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 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 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 Molecular Characterization of Peripherin-2 and Rom-1 Mutants Responsible for Digenic Retinitis Pigmentosa

2001 ◽  
Vol 276 (25) ◽  
pp. 22388-22396 ◽  
Author(s):  
Christopher J. R. Loewen ◽  
Orson L. Moritz ◽  
Robert S. Molday
Keyword(s):  
Retinitis Pigmentosa ◽  
Molecular Characterization

scholarly journals Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200

2019 ◽  
Vol 137 (11) ◽  
pp. 1295 ◽  
Author(s):  
Imran H. Yusuf ◽  
Johannes Birtel ◽  
Morag E. Shanks ◽  
Penny Clouston ◽  
Susan M. Downes ◽  
...  
Keyword(s):  
Retinitis Pigmentosa
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