GM18478
LCL from B-Lymphocyte
Description:
APPARENTLY HEALTHY INDIVIDUAL
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
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LCL from B-Lymphocyte
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Race
|
Other
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Relation to Proband
|
proband
|
Confirmation
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Clinical summary/Case history
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Species
|
Homo sapiens
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Common Name
|
Human
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Remarks
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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 |
|
Remarks |
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 |
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 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
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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