Cell line resources
The EpiCenter is committed to stem cell research as a strategy for identifying the underlying neurobiology of neurodevelopmental disorders. The Stem Cell Core banks samples donated by individuals with epilepsy, autism, intellectual disability as well as familial, isogenic and population controls. Many of these samples were obtained from the UCI Center for Autism Research and Translation (CART).
Available samples
| Fibroblast | iPSC | PBMC | NPC | Lymphoblast | |
|---|---|---|---|---|---|
| Apparently Healthy Individual | 38 | 2 | 14 | 2 | 3 |
| Ataxia and Cerebellar Hypoplasia | 1 | – | – | – | – |
| Ataxia-Telangiectasia (AT) | 1 | 1 | – | 1 | – |
| Autism, other | 49 | 5 | 28 | – | – |
| Carnitine Deficiency | 2 | – | – | – | – |
| CHD2 Haploinsufficiency | – | 4 | – | – | – |
| Diabetes Mellitus, Juvenile-Onset Insulin-Depent (IDDM) | 1 | 0 | – | – | – |
| Fragile X Mental Retardation Syndrome (FRX) | 7 | 2 | – | 2 | 2 |
| KCNB1 Mutation | 2 | – | 2 | – | – |
| Kearns-Sayre syndrome (KSS) | 2 | – | – | – | – |
| Long QT Syndrome | 1 | – | – | – | – |
| Maple Syrup Urine Disease, Type IA (MSUD) | 1 | – | – | – | – |
| Miller-Dieker Lissencephaly | – | 3 | – | – | – |
| Mucopolysaccharidosis Type IIIB | 1 | – | – | – | – |
| Muscular Dystrophy, Duchenne Type; DMD | – | 1 | – | – | – |
| Niemann-Pick Disease, Type C1 (NPC1) | 1 | – | – | – | – |
| NUBPL Mutation | 2 | – | – | – | – |
| Osteogenesis Imperfecta, Type IV (OI10) | 1 | – | – | – | – |
| Phenylketonuria | 1 | – | – | – | – |
| Prader Willi Syndrome (PWS) | 7 | – | 2 | – | – |
| Retty Syndrome (MECP2) | 3 | – | – | – | – |
| Timothy Syndrome | 1 | – | – | – | – |
| Tuberous Sclerosis (TSC) | 3 | – | – | – | 8 |
| Type I Liseencephaly | 1 | 3 | – | – | – |