GM23917
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED)
FUKUTIN; FKTN
Repository
|
NIGMS Human Genetic Cell Repository
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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
|
Japanese
|
Ethnicity
|
Not Hispanic/Latino
|
Country of Origin
|
USA
|
Family History
|
N
|
Relation to Proband
|
proband
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; symptom onset before 2 years of age; current and maximum motor function ever achieved: sit when placed; brain involvement. |
Gene Cards |
FKTN |
Gene Ontology |
GO:0005615 extracellular space |
|
GO:0005794 Golgi apparatus |
|
GO:0007399 neurogenesis |
|
GO:0007517 muscle development |
|
GO:0016021 integral to membrane |
|
GO:0016740 transferase activity |
NCBI Gene |
Gene ID:2218 |
NCBI GTR |
253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 |
|
607440 FUKUTIN; FKTN |
OMIM |
253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 |
|
607440 FUKUTIN; FKTN |
Omim Description |
CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE |
|
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD |
|
MICROPOLYGYRIA WITH MUSCULAR DYSTROPHYFUKUTIN, INCLUDED |
|
MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATION |
|
MUSCULAR DYSTROPHY, CONGENITAL, FUKUYAMA TYPE |
|
MUSCULAR DYSTROPHY, CONGENITAL, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT |
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 |
- |
|
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