YUSEVi006-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: AMN 6 iPSC

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_QY97
SpeciesHomo sapiens (Human)

Disease Information

DiseaseX-linked cerebral adrenoleukodystrophy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleABCD1p.Ile657del (c.1970_1972delTCA) (c.1968_1970delCAT)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
9,13
D18S51
13,15
D19S433
14,15.2
D21S11
28,29
D2S1338
23,24
D3S1358
17,18
D5S818
11
D7S820
12
D8S1179
15
FGA
19,23
Penta D
9
Penta E
16,18
TH01
6,9
TPOX
8,9
vWA
16,17

Publications

Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).

Son D., Quan Z.-J., Kang P.J., Park G., Kang H.-C., You S.

Stem Cell Res. 25:46-49(2017).