Coriell Institute for Medical Research
Request a Quote
Donate
Login
View Cart
Samples
OR
Website
Search Help?
Sample Catalog
|
Custom Services
|
Core Facilities
|
Genomic Data Search
Navigation Header
Biobank
NIGMS
NINDS
NIA
NHGRI
NEI
Allen Cell Collection
Rett Syndrome iPSC Collection
Autism Research Resource
HD Community Biorepository
CDC Cell and DNA
J. Craig Venter Institute
Orphan Disease Center Collection
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
Publications
Services
Overview
Biobanking Services
Core Services
Project Management
Research Support Services
Sample Cataloging
Sample Collection Kits
Sample Data Management
Sample Distribution
Sample Management
Sample Procurement
Sample Storage
Bioinformatics and Biostatistics Services
Cellular and Molecular Services
Biomarker Research Solutions
Cell Culture
Nucleic Acid Isolation and Quality Control
Clinical Trial Support
Overview
Sample Collection
Data Management
Sample Processing and QC
Storage and Distribution
Biomarker Services
Data Analaysis
Core Facilties
Overview
Animal and Xenograft
Bioinformatics and Biostatistics
Cell Imaging
CRISPR Gene Engineering
Flow Cytometry and Cell Sorting
Genomics and Epigenomics
iPSC - Induced Pluripotent Stem Cells
Organoids
Coriell Marketplace
Genomic, Epigenomic and Multiomics Services
Stem Cells and iPSC Services
Core Services
Reprogramming
Characterization and Quality Control
Differentiated Cell Lines
iPSC-Derived Organoids
iPSC Expansion
iPSC Gene Editing
Ordering
Stem Cells
Cell Lines
DNA and RNA
Featured Products
FFPE
HMW DNA
Genomic Data Search
Search by Catalog ID
Help
Create Account
Order Online
Ordering FAQ
FAQs/Culture Instructions
Reference Materials
Biobanks
NIGMS Repository
NHGRI Repository
NINDS Repository
NIA Repository
NIST
GeT-RM
Secondary Distribution Policies
MTA Assurance Form
Shipment Policy
Contact Customer Service
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
Giving
Donate
Giving FAQ
Contact Us
Legal Notice
Login
View Cart
search submit
ID00078
LCL
from
B-Lymphocyte
Description:
OMENN SYNDROME
RECOMBINATION-ACTIVATING GENE 1; RAG1
Affected:
Yes
Sex:
Female
Age:
10
MO
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIAID - USIDnet
Subcollection
Heritable Diseases
Biopsy Source
Peripheral vein
Cell Type
T-Lymphocyte
Tissue Type
Blood
Transformant
Herpesvirus saimiri
Sample Source
LCL from B-Lymphocyte
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; T-cell line immortalized using HVS; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 1106 of the RAG1 gene (1106C>T)resulting in a stop at codon 332 [Arg332Ter (R332X)]; the second allele has a G>A transition at nucleotide 1794 (G>A1794) resulting in a substitution of histidine for arginine at codon 561 [Arg561His (R561H)]
Characterizations
Passage Frozen
3
Gene
RAG1
Chromosomal Location
11p13
Allelic Variant 1
R332X; OMENN SYNDROME
Identified Mutation
ARG332TER
Gene
RAG1
Chromosomal Location
11p13
Allelic Variant 2
179615.0005
; OMENN SYNDROME
Identified Mutation
ARG561HIS
; Villa et al. (1998) found an arg561-to-his mutation in homozygous state in a patient with Ommen syndrome (267700). This mutation occurs in a domain implicated in RAG1/RAG2 interaction.
Phenotypic Data
Remarks
Clinically affected; T-cell line immortalized using HVS; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 1106 of the RAG1 gene (1106C>T)resulting in a stop at codon 332 [Arg332Ter (R332X)]; the second allele has a G>A transition at nucleotide 1794 (G>A1794) resulting in a substitution of histidine for arginine at codon 561 [Arg561His (R561H)]
External Links
Gene Cards
RAG1
Gene Ontology
GO:0000151 ubiquitin ligase complex
GO:0003677 DNA binding
GO:0004519 endonuclease activity
GO:0004842 ubiquitin-protein ligase activity
GO:0005634 nucleus
GO:0006310 DNA recombination
GO:0006955 immune response
GO:0007516 hemocyte development
GO:0008270 zinc ion binding
GO:0016567 protein ubiquitination
GO:0016787 hydrolase activity
NCBI Gene
Gene ID:5896
NCBI GTR
179615 RECOMBINATION-ACTIVATING GENE 1; RAG1
603554 OMENN SYNDROME
OMIM
179615 RECOMBINATION-ACTIVATING GENE 1; RAG1
603554 OMENN SYNDROME
Omim Description
OMENN SYNDROME
Culture Protocols
Passage Frozen
3
Split Ratio
1:3
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
5% fetal bovine serum Not inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial:
$295.00
USD
Academic &
Non-profit:
$205.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Related Products
Miscellaneous
DNA on Demand
RNA on Demand
Cell Pellets