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Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene.

Abstract：

:Incomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related with this vision disorder. Skin fibroblasts from a patient with incomplete ACHM were reprogrammed to iPSCs by the non-integrative Sendai-virus method. Finally, the iPSC line has been characterized expressing the pluripotency markers and being capable to differentiate to endoderm, mesoderm and ectoderm in vitro.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Domingo-Prim J,Abad-Morales V,Riera M,Navarro R,Corcostegui B,Pomares E

doi

10.1016/j.scr.2019.101569

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

101569

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(19)30199-0

journal_volume

40

pub_type

杂志文章

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