Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene

Marina Riera; Achchhe Patel; Borja Corcostegui; Stanley Chang; Barbara Corneo; Janet R Sparrow; Esther Pomares

doi:10.1016/j.scr.2019.101386

Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene

Stem Cell Res. 2019 Mar:35:101386. doi: 10.1016/j.scr.2019.101386. Epub 2019 Jan 17.

Authors

Marina Riera¹, Achchhe Patel², Borja Corcostegui³, Stanley Chang⁴, Barbara Corneo², Janet R Sparrow⁴, Esther Pomares⁵

Affiliations

¹ Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain; Stem Cell Core Facility, Columbia University, New York (NY), USA; Department of Ophthalmology, Columbia University, New York (NY), USA. Electronic address: genetica.riera@imo.es.
² Stem Cell Core Facility, Columbia University, New York (NY), USA.
³ Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Retina, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain.
⁴ Department of Ophthalmology, Columbia University, New York (NY), USA.
⁵ Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain. Electronic address: pomares@imo.es.

PMID: 30685615
DOI: 10.1016/j.scr.2019.101386

Abstract

A human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c.8693A > C (p.Tyr2898Ser). Skin fibroblasts were infected with Sendai virus containing the Yamanaka factors and the resulting cells were fully characterized to confirm successful reprogramming. The iPSC line expressed several pluripotency markers, could generate the three germ layers, had a normal karyotype, carried the two USH2A mutations and was free of Sendai virus. This cell line will serve as a model to unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line*
Cellular Reprogramming Techniques
Extracellular Matrix Proteins* / genetics
Extracellular Matrix Proteins* / metabolism
Female
Fibroblasts / metabolism
Fibroblasts / pathology
Heterozygote*
Humans
Induced Pluripotent Stem Cells* / metabolism
Induced Pluripotent Stem Cells* / pathology
Middle Aged
Retinitis Pigmentosa* / genetics
Retinitis Pigmentosa* / metabolism
Retinitis Pigmentosa* / pathology
Skin / metabolism
Skin / pathology

Substances

Extracellular Matrix Proteins
USH2A protein, human