Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.

Abstract:

:The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages, as well as retinal organoids.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Zhang X,Zhang D,Chen SC,Lamey T,Thompson JA,McLaren T,De Roach JN,Chen FK,McLenachan S

doi

10.1016/j.scr.2018.08.001

subject

Has Abstract

pub_date

2018-08-01 00:00:00

pages

147-151

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(18)30193-4

journal_volume

31

pub_type

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