GM29902
LCL from B-Lymphocyte
Description:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15
RUN DOMAIN- AND CYSTEINE-RICH DOMAIN-CONTAINING BECLIN-1-INTERACTING PROTEIN; RUBCN
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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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Subject Type
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trio
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Swedish, Norwegian, Czech, German
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Country of Origin
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USA
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Family Member
|
2
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Family History
|
N
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Relation to Proband
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mother
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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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|
| Passage Frozen |
1 |
| |
| Gene |
RUBCN |
| Chromosomal Location |
3q29 |
| Allelic Variant 1 |
Arg > X; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15
|
| Identified Mutation |
c.1261C>T (p.R421X) |
| Remarks |
Unaffected mother, carrier of gene. Affected son is GM29900. Unaffected spouse is GM29901. |
| Passage Frozen |
1 |
| 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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