vNBS8-iPS-c1Homo sapiens (Human)Induced pluripotent stem cell
Basic Information
| Database ID | CVCL_9U58 |
|---|---|
| Species | Homo sapiens (Human) |
| Tissue Source | Skin, dermis[UBERON:UBERON_0002067] |
Disease Information
| Disease | Nijmegen breakage syndrome |
|---|
DepMap Information
Known Sequence Variations
| Type | Gene/Protein | Description | Zygosity | Note | Source |
|---|---|---|---|---|---|
| MutationSimple | NBN | p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5) | Heterozygous | - | PubMed=26987925 |