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| ID | Type | Description | Link |
|---|---|---|---|
| 2017-A02341-52 | Other Identifier | RCB number |
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In order to further enable physiopathology studies, the aim of this project is to validate an in vitro model of cystic fibrosis created using induced pluripotent stemcell (iPS) differentiated bronchial epithelium from cystic fibrosis (CF) patients homozygous for the p.Phe508del mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
The investigator's primary objective is to generate iPS lines from 3 CF patients and from 3 healthy subjects.
Secondary objectives include verification that cell lines express the CFTR gene according to their genotype, verification or relative production of the CFTR protein for each iPS line, and amplification of obtain iPS lines for aliquot creation to facilitate sharing.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cystic fibrosis | Three cystic fibrosis patients who are homozygous for the p.Phe508del mutation. | ||
| Healthy subjects | Three healthy subjects. |
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| Measure | Description | Time Frame |
|---|---|---|
| Obtention of induced pluripotent stem cell line (iPS): yes/no | Was a pluripotent stem cell line obtained? yes/no | 28 days |
| Measure | Description | Time Frame |
|---|---|---|
| Functional bronchial epithelium present for the iPS? yes/no | Was a functional bronchial epithelium present for the iPS? yes/no | 28 days |
| Cystic fibrosis transmembrane conductance regulator (CFTR) channel function: yes/no |
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Inclusion Criteria for subjects with Cystic Fibrosis:
Inclusion Criteria for subjects without Cystic Fibrosis:
Exclusion Criteria:
Exclusion Criteria for subjects with Cystic Fibrosis:
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Three cystic fibrosis patients who are homozygous for the p.Phe508del mutation and 3 healthy subjects without cystic fibrosis.
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| Name | Affiliation | Role |
|---|---|---|
| Arnaud Bourdin, MD, PhD | Montpellier University Hospitals | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Arnaud de Villeneuve - CHU de Montpellier | Montpellier | 34295 | France |
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| ID | Term |
|---|---|
| D003550 | Cystic Fibrosis |
| ID | Term |
|---|---|
| D010182 | Pancreatic Diseases |
| D004066 | Digestive System Diseases |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
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Blood sample, RNA and induced pluripotent stem cell lines.
CFTR channel function demonstrated via response following exposure to modified oligonucleotides targeting the mutated CFTR transcript.
| 28 days |
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007232 | Infant, Newborn, Diseases |