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OR00001
iPSC
from
Fibroblast
Description:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2
CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5
Affected:
Yes
Sex:
Male
Age:
4
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Repository
Orphan Disease Center
Subcollection
Heritable Diseases
Protocols
Protocol PDF
Cell Type
Stem Cell
Cell Subtype
Induced pluripotent stem cell
Sample Source
iPSC from Fibroblast
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
ISCN
46,XY[19].arr(1-22)x2,(XY)x1
Species
Homo
sapiens
Common Name
Human
Remarks
Genotype: Mutant; Somatic Mosaic; Flanking Sequence: GTGCCAAGGAGAGTTGGTAGCTTTTACAGA[G/A]gtaagcccacccccggcattcaacaggttc; Same subject as OR00002 (Wildtype)
Passage Frozen
10
Induced Pluripotent Stem Cell
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen and intracellular marker expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the
Certificate of Analysis.
Gene
CDKL5
Chromosomal Location
Xp22
Allelic Variant 1
Val718Met; Developmental and epileptic encephalopathy 2
Identified Mutation
c.2152G>A
Remarks
Genotype: Mutant; Somatic Mosaic; Flanking Sequence: GTGCCAAGGAGAGTTGGTAGCTTTTACAGA[G/A]gtaagcccacccccggcattcaacaggttc; Same subject as OR00002 (Wildtype)
No data is available
Gene Cards
CDKL5
Gene Ontology
GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0006468 protein amino acid phosphorylation
GO:0016740 transferase activity
NCBI Gene
Gene ID:6792
NCBI GTR
300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5
OMIM
300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5
No data is available
Passage Frozen
10
Split Ratio
1:6
Percent CO2
5%
Percent O2
AMBIENT
Medium
mTeSR1
Serum
none
Substrate
Matrigel
Supplement
-
Pricing
Commercial:
$1,300.00
USD
Academic &
Non-profit:
$800.00
USD
Add to Cart
How to Order
Statement of Research Intent Form
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DNA on Demand
RNA on Demand
Cell Pellets