Establishment of Human Cellular Disease Models for Wilson Disease (IPSWILSON)
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Reprogramming patient-derived fibroblasts into induced pluripotent stem cells (iPSCs) [ Time Frame: 12 months ]
Generation of patient-specific iPSCs by using sendai-virus reprogramming method
Secondary Outcome Measures :
Differentiation of patient-specific iPSCs into disease-affected cell types [ Time Frame: 24 months ]
Establishment of iPSC-based disease model to recapitulate/phenocopy the disease in a dish
Biospecimen Retention: Samples With DNA
The skin biopsy will be carried out for patients with a diagnosis of Niemann Pick. The biopsy is performed by the physician by means of punch biopsy (diameter 2-3 mm) under local anesthesia, preferably on the forearm (alternatively: thigh). The biopsy is immediately transferred to sterile cell culture medium and sent by center representative for the quickest possible processing to CENTOGENE's laboratory located in Germany or to professional collaborators being part of the project.
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Layout table for eligibility information
Ages Eligible for Study:
6 Months to 80 Years (Child, Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients has a diagnosis of Wilson disease
Informed consent will be obtained from the patient or the parents before any study related procedures.
Patients of both genders older than 6 months and younger than 80 years
The patient has a diagnosis of Wilson dis-ease
No Informed consent from the patient or the parents before any study related procedures
Patients of both genders younger than 6 months and older than 80 years