GM24249
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
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
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
LAMA2 |
Chromosomal Location |
6q22-q23 |
Allelic Variant 1 |
Leu12Arg; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT |
Identified Mutation |
35T>G |
|
Gene |
LAMA2 |
Chromosomal Location |
6q22-q23 |
Allelic Variant 2 |
; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
Identified Mutation |
7297C>T |
Remarks |
Clinically affected; symptom onset before age 2; maximum motor function ever achieved and still maintained: sitting when placed; respiratory support used at nightime; LAMA2 mutations: c.35T>G(p.Leu12 Arg) & c.7297C>T (p.GLN2433STOP);see GM24230 (Fibro). |
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 |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|