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
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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Japanese
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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 |
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GO:0005794 Golgi apparatus |
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GO:0007399 neurogenesis |
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GO:0007517 muscle development |
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GO:0016021 integral to membrane |
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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 |
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607440 FUKUTIN; FKTN |
| OMIM |
253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 |
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607440 FUKUTIN; FKTN |
| Omim Description |
CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE |
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FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD |
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MICROPOLYGYRIA WITH MUSCULAR DYSTROPHYFUKUTIN, INCLUDED |
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MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATION |
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MUSCULAR DYSTROPHY, CONGENITAL, FUKUYAMA TYPE |
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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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