YUCMi022-AHomo sapiens (Human)Induced pluripotent stem cell
Also known as: hiPSC-KCNH2_G53S
AI Summary
No AI-generated summary available for this cell line.
Basic Information
| Database ID | CVCL_E5EA |
|---|---|
| Species | Homo sapiens (Human) |
| Tissue Source | Peripheral blood[UBERON:UBERON_0000178] |
Disease Information
| Disease | Romano-Ward syndrome |
|---|
DepMap Information
Known Sequence Variations
| Type | Gene/Protein | Description | Zygosity | Note | Source |
|---|---|---|---|---|---|
| MutationSimple | KCNH2 | p.Gly53Ser (c.157G>A) | Heterozygous | - | PubMed=39454535 |