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

Stem cell research | 2018

We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a patient with Usher syndrome type 2 (USH2). This individual was homozygous for the most prevalent variant reported in the USH2A gene, c.2299delG localized in exon 13. Reprogramming was performed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail under feeder-free culture conditions. This iPSC line will be an invaluable tool for studying the pathophysiology of USH2 and for testing the efficacy of novel treatments.

Pubmed ID: 30468996 RIS Download

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QIAGEN (tool)

RRID:SCR_008539

A commercial organization which provides assay technologies to isolate DNA, RNA, and proteins from any biological sample. Assay technologies are then used to make specific target biomolecules, such as the DNA of a specific virus, visible for subsequent analysis.

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Millipore (tool)

RRID:SCR_008983

An Antibody supplier

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Monoclonal Mouse Anti Human Smooth Muscle Actin (antibody)

RRID:AB_2223500

This monoclonal targets Smooth Muscle Actin

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Oct3/4 Antibody (C-10) (antibody)

RRID:AB_628051

This monoclonal targets Oct-3/4

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Monoclonal Mouse Anti Human Smooth Muscle Actin (antibody)

RRID:AB_2223500

This monoclonal targets Smooth Muscle Actin

View all literature mentions

Oct3/4 Antibody (C-10) (antibody)

RRID:AB_628051

This monoclonal targets Oct-3/4

View all literature mentions