用于研究罕见和难治性疾病的疾病特异性诱导多能干细胞资源。

A disease-specific iPS cell resource for studying rare and intractable diseases.

作者信息

Saito Megumu K, Osawa Mitsujiro, Tsuchida Nao, Shiraishi Kotaro, Niwa Akira, Woltjen Knut, Asaka Isao, Ogata Katsuhisa, Ito Suminobu, Kobayashi Shuzo, Yamanaka Shinya

机构信息

Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, 6068507, Japan.

Clinical Research Center, National Hospital Organization Headquarters, Tokyo, 1528621, Japan.

出版信息

Inflamm Regen. 2023 Sep 8;43(1):43. doi: 10.1186/s41232-023-00294-2.

DOI:10.1186/s41232-023-00294-2

PMID:37684663

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10485998/

Abstract

BACKGROUND

Disease-specific induced pluripotent stem cells (iPSCs) are useful tools for pathological analysis and diagnosis of rare diseases. Given the limited available resources, banking such disease-derived iPSCs and promoting their widespread use would be a promising approach for untangling the mysteries of rare diseases. Herein, we comprehensively established iPSCs from patients with designated intractable diseases in Japan and evaluated their properties to enrich rare disease iPSC resources.

METHODS

Patients with designated intractable diseases were recruited for the study and blood samples were collected after written informed consent was obtained from the patients or their guardians. From the obtained samples, iPSCs were established using the episomal method. The established iPSCs were deposited in a cell bank.

RESULTS

We established 1,532 iPSC clones from 259 patients with 139 designated intractable diseases. The efficiency of iPSC establishment did not vary based on age and sex. Most iPSC clones originated from non-T and non-B hematopoietic cells. All iPSC clones expressed key transcription factors, OCT3/4 (range 0.27-1.51; mean 0.79) and NANOG (range 0.15-3.03; mean 1.00), relative to the reference 201B7 iPSC clone.

CONCLUSIONS

These newly established iPSCs are readily available to the researchers and can prove to be a useful resource for research on rare intractable diseases.

摘要

背景

疾病特异性诱导多能干细胞（iPSC）是用于罕见病病理分析和诊断的有用工具。鉴于可用资源有限，储存这些疾病来源的iPSC并促进其广泛应用将是解开罕见病谜团的一种有前景的方法。在此，我们全面建立了来自日本特定难治性疾病患者的iPSC，并评估了它们的特性以丰富罕见病iPSC资源。

方法

招募患有特定难治性疾病的患者参与研究，并在获得患者或其监护人的书面知情同意后采集血样。从获得的样本中，使用附加体方法建立iPSC。将建立的iPSC存入细胞库。

结果

我们从259名患有139种特定难治性疾病的患者中建立了1532个iPSC克隆。iPSC的建立效率不随年龄和性别而变化。大多数iPSC克隆起源于非T和非B造血细胞。相对于参考201B7 iPSC克隆，所有iPSC克隆均表达关键转录因子OCT3/4（范围0.27 - 1.51；平均值0.79）和NANOG（范围0.15 - 3.03；平均值1.00）。