人类iPSC系INMi007-A的产生，携带与8型眼皮肤白化病相关的复合杂合DCT变异

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-20 DOI:10.1016/j.scr.2025.103810

Daria Mamaeva , Nejla Erkilic , Christel Vaché , Jérôme Prados , Laurent Guillou , Anne-Françoise Roux , Isabelle Meunier , Sandrine Marlin , Sophie Javerzat , Benoit Arveiler , Vasiliki Kalatzis

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引用次数: 0

摘要

多巴胺互变酶（DCT）基因（NM_001129889.2）的致病变异最近被发现与一种新的眼皮肤白化病（OCA）亚群8型（OCA8）有关。在这里，我们报告了一个诱导多能干细胞（iPSC）系INMi007-A的建立，该系来源于DCT中两个致病变异的单个化合物杂合的皮肤成纤维细胞，使用非整合的仙台病毒重编程方法。该iPSC细胞系在DCT外显子1上含有一个单核苷酸变异（c.118T > a; p.(Cys40Ser)），在外显子9上有一个14 bp的缺失（c.1406_1419del; p.(Phe469*)）。该细胞系是研究OCA8病理生理的重要工具。

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Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8

Pathogenic variants in the Dopachrome tautomerase (DCT) gene (NM_001129889.2) have recently been associated with a novel oculocutaneous albinism (OCA) subgroup, type 8 (OCA8). Here, we report the establishment of an induced pluripotent stem cell (iPSC) line, INMi007-A, derived from the skin fibroblasts of an individual compound heterozygous for two pathogenic variants in DCT, using the non-integrative Sendai virus reprogramming method. This iPSC line harbors a single-nucleotide variant in exon 1 of DCT (c.118T > A; p.(Cys40Ser)) and a 14-bp deletion in exon 9 (c.1406_1419del; p.(Phe469*)). This cell line represents an important tool for studying the pathophysiology of OCA8.

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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.