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Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient.

Abstract：

:We have established the patient-specific induced pluripotent stem (iPS) cell line CSUASOi004-A by using peripheral blood mononuclear cells (PBMCs) of a retinitis pigmentosa (RP) patient with a PRPF6 gene mutation (c.G2699A:p.R900H). CSUASOi004-A was established by a non-integrative method with four episomal plasmids containing the Yamanaka factors. The cell line with the specific point mutation had the typical features of normal iPS cells. For instance, the cells expressed pluripotency markers, generated all three germ layers and had a normal karyotype, and they can serve as a model for unravelling the pathogenic mechanisms underlying PRPF6-associated retinal degeneration.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Zhou Y,Jing Y,Mao S,Liu J,Cui Z,Wang Y,Chen J,Chan HF,Tang S,Chen J

doi

10.1016/j.scr.2020.101793

subject

Has Abstract

pub_date

2020-05-01 00:00:00

pages

101793

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(20)30096-9

journal_volume

45

pub_type

杂志文章

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