GM28854
LCL from B-Lymphocyte
Description:
EPISODIC ATAXIA, TYPE 2; EA2
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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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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White
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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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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| Gene |
CACNA1A |
| Chromosomal Location |
19p13.13 |
| Allelic Variant 1 |
CGA>TGA; EPISODIC ATAXIA, TYPE 2; EA2 |
| Identified Mutation |
c.4033C>T (p.Arg1345Ter) |
| Gene Cards |
CACNA1A |
| Gene Ontology |
GO:0003677 DNA binding |
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GO:0005245 voltage-gated calcium channel activity |
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GO:0005509 calcium ion binding |
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GO:0005634 nucleus |
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GO:0005891 voltage-gated calcium channel complex |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006812 cation transport |
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GO:0006816 calcium ion transport |
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GO:0007204 cytosolic calcium ion concentration elevation |
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GO:0007268 synaptic transmission |
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GO:0007399 neurogenesis |
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GO:0008219 cell death |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:773 |
| NCBI GTR |
108500 EPISODIC ATAXIA, TYPE 2; EA2 |
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601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A |
| OMIM |
108500 EPISODIC ATAXIA, TYPE 2; EA2 |
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601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A |
| Omim Description |
ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA;APCA |
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ATAXIA, FAMILIAL PAROXYSMAL |
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ATAXIA, PERIODIC VESTIBULOCEREBELLAR |
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CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CAPA |
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CEREBELLOPATHY, HEREDITARY PAROXYSMAL |
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EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED |
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EPISODIC ATAXIA, TYPE 2; EA2 |
| Split Ratio |
1:5 |
| 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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