hum0406-v1Release info

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

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.
To elucidate the molecular mechanisms underlying the pathology of Primary Ciliary Dyskinesia (PCD) caused by disease-associated gene variants. To this end, we will establish patient-specific iPSCs and gene-corrected iPSC lines, differentiate them into airway epithelial cells, and perform single-cell RNA sequencing for comparative transcriptomic analysis.

Methods

[JGAS000617 / E-GEAD-623] 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.
[JGAS000846] Airway epithelial cells derived from human iPSCs (disease-specific: PCD-iPSC; gene-corrected: CCE1-iPSC) were differentiated under air-liquid interface (ALI) conditions and subjected to single-cell RNA sequencing (scRNA-seq).

Participants/materials

[JGAS000617 / E-GEAD-623] Familial interstitial pneumonia with SFTPC variant: 1 case
- 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
[JGAS000846] Primary Ciliary Dyskinesia with a CCNO (Cyclin O) Variant: 1 case
1. Airway epithelial cell sheet derived from iPSCs established from the patient's peripheral blood
2. Airway epithelial cell sheet derived from gene-corrected iPSCs established from the patient's peripheral blood

URL

N/A

Principal investigator

Shimpei Gotoh

Affiliation

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

No research projects.

No use of the controlled access data has been recorded.