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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0406-v1Release info

This page is a past version (v1). The latest version is v2.
Latest version (v2)

Research title

The Generation of Human Disease-Specific iPS Cells and the Use of Such iPS Cells for Disease Analysis

Research overview

Aims
The ideal way of studying the disease is to use an affected part (tissue) of the patient's body. However, the use of the affected tissue involves many issues; for example, sampling of the affected tissue may impose a severe burden on the patient or is sometimes technically impossible. Therefore, iPS cells are a powerful technology that can differentiate into the various tissues that make up our bodies. The aim of this study is to generate iPS cells from patients' and/or their family members' somatic cells and to use them together with clinical information to discover more about the cause of the diseases and to develop new effective treatments.
Methods
Patient iPSC-derived type 2 alveolar epithelial (iAT2) cells (EpCAM+CPM+) and fibroblasts (EpCAM-CPM-) were isolated by fluorescence-activated cell sorting. Total RNA was extracted from the cells and sequenced.
Participants/materials
- EpCAM+CPM+ or EpCAM-CPM- cells of alveolar organoids derived from iPSCs established from PBMCs of a familial interstitial pneumonia patient with Y104H variant of SFTPC
- EpCAM+CPM+ or EpCAM-CPM- cells of Y104H-KO iPSC-derived alveolar organoids established from PBMCs of the patient with Y104H variant of SFTPC
URL
N/A

Datasets

The list is the one this version published; each dataset's content is shown as it is now.

CartDataset IDType of dataPlatformsAccess criteriaDate published
JGAD000746NGS (RNA-seq)
  • Illumina NextSeq 2000
Controlled-access (Type I)2023-08-30
E-GEAD-623NGS (RNA-seq)
  • Illumina NextSeq 2000
Unrestricted-access2023-08-30

Data provider

Principal investigator
Shimpei Gotoh
Affiliation
Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University

Research projects

No research projects.

Grants

NameTitleProject number
Research Center Network for Realization of Regenerative Medicine, Japan Agency for Medical Research and Development (AMED)
Application of human iPS cells for disclosing the pathogenic mechanisms of intractable respiratory diseases and finding novel therapeutic agents
  • JP17bm0804007

Related publications

TitleDOIDataset ID
Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC
https://doi.org/10.1016/j.isci.2023.107731 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.