Coriell Institute for Medical Research
Request a Quote
Careers
Login
View Cart
Samples
OR
Website
Search Help
Browse our Catalog
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
GM24250
LCL
from
B-Lymphocyte
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE II, ALPHA-1; COL2A1
Affected:
Yes
Sex:
Male
Age:
16
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Muscular Dystrophies
CMD Specific
Class
Congenital Muscle Diseases
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family Member
1
Family History
Y
Relation to Proband
proband
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; symptom onset at age range 6-10 years; maximum motor function ever achieved: running; current maximum motor function: climbing stairs with handrail; affected brother is GM24251.
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Remarks
Clinically affected; symptom onset at age range 6-10 years; maximum motor function ever achieved: running; current maximum motor function: climbing stairs with handrail; affected brother is GM24251.
No data is available
Gene Cards
COL2A1
Gene Ontology
GO:0001501 skeletal development
GO:0005201 extracellular matrix structural constituent
GO:0005581 collagen
GO:0005584 collagen type I
GO:0005585 collagen type II
GO:0005737 cytoplasm
GO:0006817 phosphate transport
GO:0007605 perception of sound
NCBI Gene
Gene ID:1280
NCBI GTR
120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1
254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1
OMIM
120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1
254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1
Omim Description
ULLRICH DISEASE
No data is available
Split Ratio
1:4
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial/For-profit:
$259.00
USD
Academic/Non-profit/Government:
$143.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
Related Products
Same Family
3098
Miscellaneous
DNA on Demand
Custom Services