NIGMS Repository at the Coriell Institute for Medical Research
NIGMS Repository at the Coriell Institute for Medical Research print
The Human Genetic Cell Repository, sponsored by the National Institute of General Medical Sciences, provides scientists around the world with resources for cell and genetic research. The samples include highly characterized cell lines and high quality DNA. Repository samples represent a variety of disease states, chromosomal abnormalities, apparently healthy individuals and many distinct human populations.
Abdominal aortic aneurysm, Alpers Syndrome, Arrhythmogenic Right Ventricular Cardiomyopathy, Bannayan-Riley-Ruvalcaba Syndrome, Barth syndrome, Carnitine Deficiency, Carnitine Palmitoyl Transferase 1 Deficiency, Carnitine Palmitoyl Transferase 2 Deficiency, Carnitine-Acylcarnitine Translocase Deficiency, Chronic Progressive External Ophthalmoplegia, Creatine Deficiency, X-Linked, Glutaric Aciduria 1, Glutaric Acidemia Type II, Lynch syndrome, Hypertrophic Cardiomyopathy, Kearns-Sayre Syndrome, Lactic Acidosis, LCAD deficiency, LCHAD deficiency, Li-Fraumeni syndrome, Loeys-Dietz Syndrome, Malignant hyperthermia susceptibility type 1, Malignant hyperthermia susceptibility type 2, Malignant hyperthermia susceptibility type 3, Malignant hyperthermia susceptibility type 4, Malignant hyperthermia susceptibility type 5, Malignant hyperthermia susceptibility type 6, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Mitochondrial complex II deficiency, Mitochondrial complex III deficiency, Mitochondrial complex IV deficiency, Mitochondrial complex V deficiency, Mitochondrial disorders, Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes, Mitochondrial neurogastrointestinal encephalopathy syndrome, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia, type 2B, Myoclonus with epilepsy with ragged red fibers, Pearson marrow-pancreas syndrome, Peutz Jeghers syndrome, Polymorphic catecholergic ventricular tachycardia, Pyruvate carboxylase deficiency, Pyruvate dehydrogenase deficiency, SCHAD Deficiency, Short chain acyl CoA dehydrogenase deficiency, Thyroid cancer, familial medullary, Turcot syndrome, Very long chain acyl-CoA dehydrogenase deficiency, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1, Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission, Leigh syndrome due to mitochondrial complex II deficiency, Mitochondrial DNA depletion syndrome 2, Mitochondrial DNA depletion syndrome 4B, MNGIE type, Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria), Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, Mitochondrial DNA-depletion syndrome 3, hepatocerebral, Mitochondrial myopathy, MYH-associated polyposis, Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1, Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2, Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3, The NIGMS Repository at the Coriell Institute for Medical Research collects samples from individuals with all different types of genetic diseases and chromosomal abnormalities. These samples are used to make cell lines and DNA for the international scientific research community for use in finding new genes, studying how cells function, and developing new ways to diagnose, treat and possibly prevent genetic diseases.
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Information Provided for
- Affected Individuals
- Families of Affected Individuals
- Care Providers
- Health Care Professionals
- The Public
Printed Materials Provided in
Educational Materials Include
Conferences & Workshops
No information is available for Conferences/Workshops.
Service and Support Information
Range of Services Include
No information is available for Range of Services Include.
Financial Assistance for
- reimbursement of up to $40 for cost of a blood draw for repository sample donation
No information is available for Cohort Development.
No information is available for Disease Characterization.
No information is available for Research Management.
No information is available for Research Funding.
Information for Patients About the Repository
Help build a research resource for scientists studying inherited genetic diseases and chromosomal abnormalities: Donate a blood or tissue sample to the National Institute of General Medical Sciences Human Genetic Cell Repository at the Coriell Instit