ZJUCHi002-AHomo sapiens (Human)Induced pluripotent stem cell
AI Summary
No AI-generated summary available for this cell line.
Basic Information
| Database ID | CVCL_WG63 |
|---|---|
| Species | Homo sapiens (Human) |
| Tissue Source | Urine[UBERON:UBERON_0001088] |
Disease Information
| Disease | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 |
|---|
DepMap Information
Known Sequence Variations
| Type | Gene/Protein | Description | Zygosity | Note | Source |
|---|---|---|---|---|---|
| MutationSimple | MFN2 | p.Pro251Leu (c.752C>T) | Heterozygous | - | PubMed=30807887 |