Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa

We report here the generation of the human iPSC line INMi005-A from a patient with non-syndromic autosomal recessive retinitis pigmentosa caused by compound heterozygous mutations in the USH2A gene. The reprogramming of primary human dermal fibroblasts was performed using the non-integrative Sendai...

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Published inStem cell research Vol. 60; p. 102738
Main Authors Sanjurjo-Soriano, Carla, Erkilic, Nejla, Vache, Christel, Dubois, Gregor, Roux, Anne-Françoise, Meunier, Isabelle, Kalatzis, Vasiliki
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.04.2022
Elsevier
Subjects
Extracellular Matrix Proteins - genetics
Humans
Induced Pluripotent Stem Cells
Mutation - genetics
Retinitis Pigmentosa - genetics
Usher Syndromes - genetics
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Summary:We report here the generation of the human iPSC line INMi005-A from a patient with non-syndromic autosomal recessive retinitis pigmentosa caused by compound heterozygous mutations in the USH2A gene. The reprogramming of primary human dermal fibroblasts was performed using the non-integrative Sendai virus method and the OSKM transcription factor cocktail. The generated INMi005-A iPSC line is pluripotent and genetically stable, and will represent a valuable tool for understanding the pathophysiology associated with USH2A mutations.
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102738