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Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome.

Abstract：

:Wolfram Syndrome is a rare, autosomal recessive genetic disorder with clinical symptoms appearing in early childhood. Here, we report a generation of iPSCs from fibroblasts of a patient affected by this disease. Induced pluripotent cells obtained with the application of integration-free episomal vectors display a normal human karyotype, express pluripotency markers, and are capable of differentiating into cells of the three embryonic germ layers. Thanks to these features, this cell line is a useful model for tissue-specific pathogenetic mechanisms in Wolfram Syndrome caused by WFS1 mutations.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Grzela DP,Marciniak B,Pulaski L

doi

10.1016/j.scr.2020.101858

subject

Has Abstract

pub_date

2020-07-01 00:00:00

pages

101858

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(20)30159-8

journal_volume

46

pub_type

杂志文章

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