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GM24221
LCL
from
B-Lymphocyte
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Affected:
Yes
Sex:
Female
Age:
11
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
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
Family Member
1
Family History
Y
Relation to Proband
proband
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; symptom onset between 2-5 years of age; maximum motor function ever achieved and current maximum motor function: running; mutation: COL6a1. c.877G>A (p.G293R); mother is GM24222 (Lymph) and GM24223 (Fibro).
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Gene
COL6A1
Chromosomal Location
21q22.3
Allelic Variant 1
; ULLRICH CONGENITAL MUSCULAR DYSTROPHY
Identified Mutation
877G>A
Phenotypic Data
Remarks
Clinically affected; symptom onset between 2-5 years of age; maximum motor function ever achieved and current maximum motor function: running; mutation: COL6a1. c.877G>A (p.G293R); mother is GM24222 (Lymph) and GM24223 (Fibro).
External Links
Gene Cards
COL6A1
Gene Ontology
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0005581 collagen
GO:0005589 collagen type VI
GO:0005737 cytoplasm
GO:0006817 phosphate transport
GO:0007155 cell adhesion
NCBI Gene
Gene ID:1291
NCBI GTR
120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1
254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1
OMIM
120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1
254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1
Omim Description
ULLRICH DISEASE
Culture Protocols
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:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
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