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Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.

Abstract：

:Crumbs homologue 1 (CRB1) mutations have been found in retinitis pigmentosa (RP) patients lead to severe retinal dystrophies. The human induced pluripotent stem (iPS) cell line CSUASOi003-A derived from peripheral blood mononuclear cells (PBMCs) of a patient carrying two heterozygous mutations (2249G>A p.G750D and c.2809G>A p.A937T) in CRB1 gene was generated by non-integrative reprogramming technology. Pluripotency and differentiation capacity were assessed by immunocytochemistry and quantitative polymerase chain reaction (qPCR). The RP patient-specific iPS cell line provide a powerful model for evaluating the pathological phenotypes of the disease.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Zhou Y,Ding C,Xia S,Jing Y,Mao S,Liu J,Chen J,Chan HF,Tang S,Chen J

doi

10.1016/j.scr.2020.101742

subject

Has Abstract

pub_date

2020-04-01 00:00:00

pages

101742

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(20)30046-5

journal_volume

44

pub_type

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