YS2Homo sapiens (Human)Finite cell line
AI Summary
No AI-generated summary available for this cell line.
Basic Information
| Database ID | CVCL_LC45 |
|---|---|
| Species | Homo sapiens (Human) |
| Tissue Source | Skin[UBERON:UBERON_0002097] |
Disease Information
| Disease | Homozygous familial hypercholesterolemia |
|---|
DepMap Information
Known Sequence Variations
| Type | Gene/Protein | Description | Zygosity | Note | Source |
|---|---|---|---|---|---|
| MutationSimple | LDLR | c.1845+2T>C | Heterozygous | Splice donor mutation | Unknown |
Haplotype Information (STR Profile)
Short Tandem Repeat (STR) profile for cell line authentication.
Amelogenin
X
CSF1PO
12
D13S317
9
D16S539
9,11
D5S818
11,13
D7S820
10,12
TH01
7
TPOX
8,9
vWA
18