Coriell Institute for Medical Research
Request a Quote
Careers
Login
View Cart
Samples
OR
Website
Search Help?
Sample Catalog
|
Custom Services
|
Core Facilities
|
Genomic Data Search
Navigation Header
Biobank
NIGMS
NINDS
NIA
NHGRI
Allen Cell Collection
Rett Syndrome iPSC Collection
Autism Research Resource
HD Community Biorepository
CDC Cell and DNA
NEI
J. Craig Venter Institute
Orphan Disease Center Collection
Phase Clinical Services
All Biobanks
Research
Overview
Meet Our Scientists
Our Faculty
Our Scientific Staff
Camden Cancer Research Center
Epigenetic Therapies SPORE
Core Facilities
Epigenomics
Camden Opioid Research Initiative (CORI)
The Issa & Jelinek Lab
The Jian Huang Lab
The Luke Chen Lab
The Lab
The Team
Publications
The Scheinfeldt Lab
The Shumei Song Lab
The Nora Engel Lab
The Lab
The Team
Publications
Coriell Personalized Medicine Collaborative (CPMC)
Publications
Services
Stem Cells
Biobanking and Distribution
Biobanking
Biological and Pharmaceutical Storage
Collection Kits
Coriell Marketplace
Research Support Services
Sample Procurement
Cellular and Molecular Analysis
Genomic and Epigenomic Services
Nucleic Acid Isolation and Quality Control
Customized Experimental Design and Research Solutions
Biomarkers
Cell Culture
Research and Development Models
Browse
Stem Cells
Cell Lines
DNA and RNA
Featured Products
FFPE
HMW DNA
Genomic Data Search
Diseases
Rare Diseases
Species
Gene Variants, Mutations
Notable Collections
GRC
REGARDS
Amish Major Affective Disorders
Longevity Research
Search by Catalog ID
Search Help
Ordering
Create Account
Order Online
Ordering FAQ
FAQs/Culture Instructions
Fibroblast Cultures
Lymphoblast Cultures
DNA Samples
RNA Samples
NIA mESC
AICS fluorescently tagged hiPSC
Adipose Stromal Cultures
Melanocyte Cultures
Keratinocyte Cultures
Mammary Epithelial Cultures
Amniotic Fluid-Derived Cultures
Endothelial and Smooth Muscle Cultures
Mesothelial Cultures
Myoblast Cultures
EBV Protocol
Cell Culture Medium
Passage vs PDL
Fetal Bovine Serum
ISCN Nomenclature
Reference Materials
Biobanks
NIGMS Repository
NHGRI Repository
NINDS Repository
NIA Repository
NIST
GeT-RM
MTA Assurance Form
Shipment Policy
Contact Customer Service
Donate
Our Message
Your Impact
Giving FAQs
Make a Donation
About Us
Our History
Meet Our Team
Meet Our Board
Education
Science Fair
Summer Experience
Outreach
Research Program Internship
Press Room
Press Releases
Coriell Blog
Annual Report
Careers
Working at Coriell
Current Openings
Giving
Our Message
Your Support in Action
Giving FAQ
Giving Tuesday
Contact Us
Legal Notice
Login
View Cart
search submit
OR00005
iPSC
from
Fibroblast
Description:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2
CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5
Affected:
Yes
Sex:
Female
Age:
22
MO
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
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,XX[18].arr(1-22,X)x2
Species
Homo
sapiens
Common Name
Human
Remarks
Genotype: Mutant. Donor subject carries a heterozygous C>T transition at nucleotide 1648 in exon 12 of the CDKL5 gene (1648C>T) resulting in a nonsense mutation at codon 550 (Arg550X). Reference Sequence: CACAGTGACACGAGAACTTTGCTCAGCCCTTCTGGAAGAAATAAC[C/T]GAAATGAGGGAACGCTGGACTCACGTCGAACCACAACCAGA. Same subject as OR00006 (wild-type allele), OR00024 (isogenic control) and OR00025 (passage-matched control of OR00024).
Characterizations
Passage Frozen
8
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
Arg550X; Developmental and epileptic encephalopathy 2
Identified Mutation
c.1648C>T
Phenotypic Data
Remarks
Genotype: Mutant. Donor subject carries a heterozygous C>T transition at nucleotide 1648 in exon 12 of the CDKL5 gene (1648C>T) resulting in a nonsense mutation at codon 550 (Arg550X). Reference Sequence: CACAGTGACACGAGAACTTTGCTCAGCCCTTCTGGAAGAAATAAC[C/T]GAAATGAGGGAACGCTGGACTCACGTCGAACCACAACCAGA. Same subject as OR00006 (wild-type allele), OR00024 (isogenic control) and OR00025 (passage-matched control of OR00024).
External Links
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
Culture Protocols
Passage Frozen
8
Split Ratio
1:5
Temperature
37 C
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
Related Products
Same Family
3562
Miscellaneous
DNA on Demand
RNA on Demand
Cell Pellets