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Overview
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Collection
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Sample Description |
APPARENTLY HEALTHY NON-FETAL TISSUE |
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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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Species
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Homo sapiens
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Common Name
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Human
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Age At Sampling
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24 YR
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Sex
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Female
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Race
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Other
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Relation to Proband
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proband
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Clinically Affected
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No
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Confirmation
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Clinical summary/Case history
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Remarks
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| Catalog ID |
GM18478 |
| Product |
Cell Culture |
| Pricing |
Commercial Pricing: $85.00
Academic and not-for-profit pricing: $85.00 |
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| Catalog ID |
NA18478 |
| Product |
DNA |
| Quantity |
0.050mg |
| Source |
cell culture |
| Pricing |
Commercial Pricing: $55.00
Academic and not-for-profit pricing: $55.00 |
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How to Order
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Online Ordering
Assurance Form (Must have current form on file)
Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)
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Characterizations
| Sample Description |
APPARENTLY HEALTHY NON-FETAL TISSUE |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| DNA Profile |
| D10S526 |
194, 194 |
| D22S417 |
173, 173 |
| D5S592 |
178, 186 |
| FES/FPS |
224, 224 |
| THO-1 |
163, 171 |
| VWA31 |
145, 145 |
Phenotypic Data
| Remark |
Clinically normal; mixed race: Caucasian, black, and Native American; negative control for facioscapularhumeral muscular dystrophy, type 1A (FSHMD1A; FSHMD; FSHD; OMIM 158900); the number of the polymorphic macrosatellite repeats (D4Z4) in the subtelomeric region of 4q35 and at chromosome 10q26 were determined; the D4Z4 repeat number on chromosome 4q35 is predictive for FSHD; submitter’s repeat analyses were not performed on this culture, but on a separate peripheral blood specimen from this same donor: D4Z4 repeats for this donor subject are as follows: 4q35: 27/27 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 6/10 copies |
Publications
| Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M, Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers Nucleic acids research36:2196-207 2008 |
| PubMed ID: 18281700 |
Culture Protocols
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
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