四种具有RPGRIP1L或CPLANE1基因突变的Joubert综合征患者来源的诱导多能干细胞（iPSC）系的产生和特性

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-05-10 DOI:10.1016/j.scr.2025.103734

L. Pollara , E. de Gregorio , V. Buonofiglio , L. Bianca , T. Stellato , M. Brusa , E. De Gasperi , A. Ardissone , G. Zanni , R. Battini , S. Briuglia , V. Sottile , E.M. Valente

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引用次数: 0

摘要

从Joubert综合征患者中产生了4个iPSC系，其中2个携带RPGRIP1L基因的复合杂合变异体(c.2050C >；T / c。2304 + 1G >；T为一条线，c.751C >；T / c。1679 c比;T为另一个)和两个在CPLANE1基因(c.8137_8138insT为一行，c.4634G >；A代表另一个)。使用仙台病毒方法对患者皮肤成纤维细胞进行重编程，得到的iPSC系证实具有与亲代成纤维细胞相同的STR谱，核型正常，未分化PSC标记（OCT4, SOX2， SSEA4和NANOG）的表达，并且能够在体外分化为三种胚层的衍生物。

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Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes

Four iPSC lines were generated from patients with Joubert syndrome, two carrying compound heterozygous variants in the RPGRIP1L gene (c.2050C > T/c.2304 + 1G > T for one line, c.751C > T/c.1679C > T for the other) and two harbouring homozygous variants in the CPLANE1 gene (c.8137_8138insT for one line, c.4634G > A for the other). Dermal fibroblasts from patients were reprogrammed using the Sendai virus method and the resulting iPSC lines, confirmed to show the same STR profile as parental fibroblasts, displayed a normal karyotype, the expression of undifferentiated PSC markers (OCT4, SOX2, SSEA4 and NANOG) and the ability to differentiate into derivatives of the three germ layers in vitro.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.