YUSEVi005-AHomo sapiens (Human)Induced pluripotent stem cell
Also known as: SCHI001-A, AMN 5, AMN 5 iPSC
AI Summary
No AI-generated summary available for this cell line.
Basic Information
| Database ID | CVCL_QY96 |
|---|---|
| Species | Homo sapiens (Human) |
Disease Information
| Disease | X-linked cerebral adrenoleukodystrophy |
|---|
DepMap Information
Known Sequence Variations
| Type | Gene/Protein | Description | Zygosity | Note | Source |
|---|---|---|---|---|---|
| MutationSimple | ABCD1 | p.Gly512Ser (c.1534G>A) | Hemizygous | - | PubMed=29065337 |
Haplotype Information (STR Profile)
Short Tandem Repeat (STR) profile for cell line authentication.
Amelogenin
X,Y
CSF1PO
11
D13S317
10,12
D16S539
9,11,12,13
D18S51
12,13,15,18
D19S433
14,15.2
D21S11
28,29,31,32.2
D2S1338
22,23,24
D3S1358
15,17,18
D5S818
11,13
D7S820
11,12
D8S1179
13,15
FGA
19,23
Penta D
9
Penta E
11,16,18,23
TH01
6,9
TPOX
8,9,11
vWA
14,16,17,20
Publications
Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair.
You S., Kim D.-S., Jang J., Lee S.-H., Kim H.H., Kang H.-C.
Stem Cell Res. 59:102664-102664(2022).