ZM LCLHomo sapiens (Human)Transformed cell line
AI Summary
No AI-generated summary available for this cell line.
Basic Information
| Database ID | CVCL_B7LH |
|---|---|
| Species | Homo sapiens (Human) |
| Tissue Source | Peripheral blood[UBERON:UBERON_0000178] |
Disease Information
| Disease | Immunodeficiency by defective expression of MHC class II |
|---|
DepMap Information
Known Sequence Variations
| Type | Gene/Protein | Description | Zygosity | Note | Source |
|---|---|---|---|---|---|
| MutationSimple | RFXAP | p.Ser123Thrfs*15 (c.368delG) (484delG) | Homozygous | - | PubMed=9287230 |
Publications
Genetic and molecular definition of complementation group D in MHC class II deficiency.
Fischer A., Lisowska-Grospierre B.
Hum. Mol. Genet. 7:879-885(1998).